ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.795C>T (p.Pro265=)

gnomAD frequency: 0.00001  dbSNP: rs758191018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876000 SCV001018502 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026997 SCV001189483 likely benign Hereditary cancer-predisposing syndrome 2017-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478562 SCV004221249 likely benign not provided 2022-10-07 criteria provided, single submitter clinical testing

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