ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1417G>C (p.Glu473Gln)

dbSNP: rs1135402743
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Total submissions: 1
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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 RCV000497001 SCV000328615 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research

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