ClinVar Miner

Submissions for variant NM_002072.5(GNAQ):c.627A>C (p.Gln209His)

dbSNP: rs2118444312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526532 SCV001736954 pathogenic Familial multiple nevi flammei criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254352 SCV002525661 pathogenic not provided 2021-09-11 criteria provided, single submitter clinical testing This variant has previously been reported as a somatic change in patients with vascular anomalies (PMID: 27058448, PMID: 30677207, PMID: ), and is absent from large population databases (Genome Aggregation Database v2.1.1).

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