ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3383-5G>A

gnomAD frequency: 0.00006  dbSNP: rs762528243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204245 SCV000261688 benign Rhabdoid tumor predisposition syndrome 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569683 SCV000663945 likely benign Hereditary cancer-predisposing syndrome 2019-08-27 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.
Baylor Genetics RCV001292771 SCV001481418 uncertain significance Intellectual disability, autosomal dominant 16 2018-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001292771 SCV002056199 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000569683 SCV002532894 benign Hereditary cancer-predisposing syndrome 2020-12-09 criteria provided, single submitter curation

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