ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.2913+6C>G

gnomAD frequency: 0.00153  dbSNP: rs186678728
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282417 SCV000337139 likely benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000282417 SCV000615342 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875359 SCV001017673 likely benign Facioscapulohumeral muscular dystrophy 2 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001753745 SCV001987301 benign not provided 2021-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001753745 SCV005214840 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003967736 SCV004781921 likely benign SMCHD1-related disorder 2019-04-10 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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