ClinVar Genomic variation as it relates to human health
NM_000493.4(COL10A1):c.787A>G (p.Ile263Val)
Germline
Classification
(1)
Benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
COL10A1 | - | - |
GRCh38 GRCh37 |
- | 451 | |
NT5DC1 | - | - | - |
GRCh38 GRCh37 |
22 | 474 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Aug 30, 2022 | RCV003118114.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024