ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1132-14C>T

gnomAD frequency: 0.00053  dbSNP: rs184510956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095982 SCV002391800 likely benign Facioscapulohumeral muscular dystrophy 2 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507973 SCV002804799 likely benign Arrhinia with choanal atresia and microphthalmia syndrome; Facioscapulohumeral muscular dystrophy 2 2021-12-16 criteria provided, single submitter clinical testing

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