ClinVar Miner

Submissions for variant NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) (rs397514698)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000533476 SCV000622156 pathogenic Capillary malformation; Sturge-Weber syndrome 2016-07-19 criteria provided, single submitter clinical testing This variant has been described in multiple affected individuals with a mosaic etiology (PMID 26778290)
OMIM RCV000043592 SCV000071610 pathogenic Sturge-Weber syndrome 2014-12-01 no assertion criteria provided literature only
OMIM RCV000043593 SCV000071611 pathogenic Capillary malformation 2014-12-01 no assertion criteria provided literature only

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