ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.2147-7C>T

gnomAD frequency: 0.00473  dbSNP: rs113524119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243652 SCV000312515 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243652 SCV000338154 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554867 SCV000638435 benign Facioscapulohumeral muscular dystrophy 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV002244631 SCV002512831 likely benign not provided 2021-10-29 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002244631 SCV004144729 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SMCHD1: BP4, BS2

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