ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln)

dbSNP: rs886042392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262076 SCV000333884 uncertain significance not provided 2015-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000262076 SCV005414770 likely pathogenic not provided 2024-05-19 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17304554, 28067911, 32779700, 28067909, 31243061)
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000497002 SCV000328618 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research

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