ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.789C>T (p.His263=)

gnomAD frequency: 0.00046  dbSNP: rs374899324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291817 SCV000337680 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079065 SCV001021857 likely benign Facioscapulohumeral muscular dystrophy 2 2024-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957434 SCV004773305 likely benign SMCHD1-related disorder 2020-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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