ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)

dbSNP: rs1135402740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000497007 SCV002762738 uncertain significance Arrhinia with choanal atresia and microphthalmia syndrome 2022-06-21 criteria provided, single submitter research ACMG codes: PM1, PM2, PP3, PP3
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000497007 SCV000328605 pathogenic Arrhinia with choanal atresia and microphthalmia syndrome no assertion criteria provided research
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital RCV000497014 SCV000328606 pathogenic Cryptorchidism; Short nose; Microphallus no assertion criteria provided research

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