ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)

dbSNP: rs1057519644
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Total submissions: 3
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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 RCV000417296 SCV000328601 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research
OMIM RCV000417296 SCV000503080 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome 2012-12-01 no assertion criteria provided literature only
OMIM RCV000417337 SCV000503081 pathogenic Facioscapulohumeral muscular dystrophy 2 2012-12-01 no assertion criteria provided literature only

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