ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.1956+7C>T

gnomAD frequency: 0.00201  dbSNP: rs145755468
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251342 SCV000312511 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000251342 SCV000334227 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540106 SCV000638434 benign Facioscapulohumeral muscular dystrophy 2 2025-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000251342 SCV001476128 benign not specified 2024-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422175 SCV004144728 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SMCHD1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003422175 SCV005214834 likely benign not provided criteria provided, single submitter not provided

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