ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3277-5C>T

gnomAD frequency: 0.00001  dbSNP: rs542259388
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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) RCV000352332 SCV000338892 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089314 SCV001016184 likely benign Facioscapulohumeral muscular dystrophy 2 2024-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967747 SCV004778422 likely benign SMCHD1-related disorder 2023-09-14 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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