ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3457C>T (p.Leu1153=)

dbSNP: rs1555783211
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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 RCV000564839 SCV000672254 likely benign Hereditary cancer-predisposing syndrome 2017-01-10 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 RCV001414492 SCV001616631 likely benign Rhabdoid tumor predisposition syndrome 2 2018-11-28 criteria provided, single submitter clinical testing
GeneDx RCV004592759 SCV005078238 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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