ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4305C>T (p.Asp1435=)

gnomAD frequency: 0.00001  dbSNP: rs771071300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565719 SCV000664242 likely benign Hereditary cancer-predisposing syndrome 2016-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000865129 SCV001006047 likely benign Rhabdoid tumor predisposition syndrome 2 2024-10-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407748 SCV006074194 likely benign not specified 2025-04-10 criteria provided, single submitter clinical testing

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