ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)

gnomAD frequency: 0.00082  dbSNP: rs141275968
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226513 SCV000287849 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507447 SCV000605225 benign not specified 2017-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563318 SCV000675207 likely benign Hereditary cancer-predisposing syndrome 2017-09-06 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.
Eurofins Ntd Llc (ga) RCV000507447 SCV000859970 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563318 SCV002535357 benign Hereditary cancer-predisposing syndrome 2021-02-17 criteria provided, single submitter curation

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