ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys)

dbSNP: rs1057519645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000417256 SCV000328596 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research
OMIM RCV000417256 SCV000503082 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome 2017-02-27 no assertion criteria provided literature only

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