ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4636-10C>A

dbSNP: rs878854228
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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 RCV000646840 SCV000768625 likely benign Rhabdoid tumor predisposition syndrome 2 2024-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483866 SCV002787266 uncertain significance Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2021-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392489 SCV004120803 uncertain significance SMARCA4-related disorder 2023-08-18 criteria provided, single submitter clinical testing The SMARCA4 c.4732-10C>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/537794/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV000646840 SCV004204954 uncertain significance Rhabdoid tumor predisposition syndrome 2 2023-07-25 criteria provided, single submitter clinical testing

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