ClinVar Genomic variation as it relates to human health
NM_017827.4(SARS2):c.603A>G (p.Gln201=)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)
Likely pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
SARS2 | - | - |
GRCh38 GRCh38 GRCh37 |
239 | 284 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 10, 2023 | RCV003444383.1 | |
Uncertain significance (1) |
|
Jul 21, 2023 | RCV003319635.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023