Clinical Genetics Laboratory (Skane University Hospital Lund), Clinical_Genetics
General information
Personnel
- Hans Ehrencrona, Medical Director
Phone: +4646176372
Email: hans.ehrencrona@skane.se - Tord Jonson, Variant scientist/curator
Phone: +4646171000
Email: tord.jonson@skane.se - Sofie Samuelsson, Variant scientist/curator
Phone: +4646171000
Email: sofie.samuelsson@skane.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Autosomal recessive nonsyndromic hearing loss 1A | 1 | Jun 20, 2023 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Sep 6, 2023 |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Sep 5, 2023 |
Developmental and epileptic encephalopathy, 19 | 1 | May 10, 2023 |
HTRA1-related autosomal dominant cerebral small vessel disease | 1 | Aug 25, 2023 |
Hypertrophic cardiomyopathy | 1 | Dec 16, 2019 |
Hypertrophic cardiomyopathy 1 | 1 | Jun 16, 2023 |
Lissencephaly | 1 | May 26, 2021 |
Lynch syndrome | 1 | Aug 11, 2023 |
Noonan syndrome 7 | 1 | Jun 16, 2023 |
Recurrent fever | 1 | Sep 6, 2023 |
Williams syndrome | 1 | Jun 16, 2023 |