HSP Biomedical Diagnostics Department
(Hospital San Pedro), HSP_BDD
General information
HSP Biomedical Diagnostics Department, HSP_BDD
Hospital San Pedro
Calle Piqueras 98
Logroño
United States - 26006
Organization ID: 506666
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 31
Gene
Gene | Submissions | Last Updated |
---|
ATM | 2 | Aug 20, 2018 |
C11orf65 | 1 | Aug 8, 2018 |
CACNA1G | 1 | Jul 21, 2023 |
CNKSR2 | 1 | May 5, 2023 |
COL4A1 | 1 | May 5, 2023 |
COL4A5 | 1 | Apr 4, 2021 |
COL7A1 | 2 | Jul 21, 2023 |
DCX | 1 | Jul 21, 2023 |
DDX3X | 1 | Mar 9, 2021 |
DYM | 1 | May 11, 2021 |
FLNB | 1 | May 5, 2023 |
GJB1 | 1 | Jul 21, 2023 |
GNAS | 1 | May 1, 2021 |
GNB1 | 1 | Apr 1, 2021 |
KCNC1 | 1 | Jul 21, 2023 |
KCNQ3 | 1 | Mar 4, 2021 |
KMT5B | 1 | Jul 21, 2023 |
MYT1L | 1 | Jul 21, 2023 |
NAGLU | 1 | Jul 21, 2023 |
NHLRC1 | 1 | Mar 11, 2021 |
OPA1 | 1 | Feb 19, 2021 |
PKD1 | 1 | Apr 4, 2021 |
RYR1 | 1 | Mar 24, 2021 |
SERPING1 | 2 | Jul 21, 2023 |
SPTAN1 | 1 | Mar 17, 2021 |
TAPBPL | 1 | Jul 21, 2023 |
TCF12 | 1 | Jul 21, 2023 |
TSC1 | 1 | Mar 19, 2021 |
VAMP1 | 1 | Jul 21, 2023 |
WFS1 | 1 | Mar 24, 2021 |
Condition
Name | Submissions | Last Updated | Ataxia-telangiectasia syndrome | 2 | Aug 20, 2018 |
Autosomal dominant nonsyndromic hearing loss 6 | 1 | Mar 24, 2021 |
Autosomal dominant optic atrophy classic form | 1 | Feb 19, 2021 |
Brain small vessel disease 1 with or without ocular anomalies | 1 | May 5, 2023 |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jul 21, 2023 |
Charcot-Marie-Tooth disease axonal type 2V | 1 | Jul 21, 2023 |
Developmental and epileptic encephalopathy, 5 | 1 | Mar 17, 2021 |
Dyggve-Melchior-Clausen syndrome | 1 | May 11, 2021 |
Hereditary angioedema type 1 | 2 | Jul 21, 2023 |
Intellectual disability, X-linked 102 | 1 | Mar 9, 2021 |
Intellectual disability, X-linked, syndromic, Houge type | 1 | May 5, 2023 |
Intellectual disability, autosomal dominant 39 | 1 | Jul 21, 2023 |
Intellectual disability, autosomal dominant 42 | 1 | Apr 1, 2021 |
Intellectual disability, autosomal dominant 51 | 1 | Jul 21, 2023 |
Lafora disease | 1 | Mar 11, 2021 |
Lissencephaly type 1 due to doublecortin gene mutation | 1 | Jul 21, 2023 |
Malignant hyperthermia, susceptibility to, 1 | 1 | Mar 24, 2021 |
Polycystic kidney disease, adult type | 1 | Apr 4, 2021 |
Progressive myoclonic epilepsy type 7 | 1 | Jul 21, 2023 |
Pseudohypoparathyroidism type 1C | 1 | May 1, 2021 |
Pseudohypoparathyroidism type I A | 1 | May 1, 2021 |
Recessive dystrophic epidermolysis bullosa | 2 | Jul 21, 2023 |
Seizures, benign familial neonatal, 2 | 1 | Mar 4, 2021 |
Spastic ataxia 1 | 1 | Jul 21, 2023 |
Spinocerebellar ataxia type 42 | 1 | Jul 21, 2023 |
Spondylocarpotarsal synostosis syndrome | 1 | May 5, 2023 |
TCF12-related craniosynostosis | 1 | Jul 21, 2023 |
Tuberous sclerosis 1 | 1 | Mar 19, 2021 |
X-linked Alport syndrome | 1 | Apr 4, 2021 |