ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3951+6C>T

gnomAD frequency: 0.00001  dbSNP: rs759241380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543524 SCV000648081 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000605453 SCV000732785 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001809524 SCV002056214 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745466 SCV005366337 likely benign SMARCA4-related disorder 2024-05-10 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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