ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) (rs144863210)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000313849 SCV000332963 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Invitae RCV000465162 SCV000561790 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575989 SCV000675212 likely benign Hereditary cancer-predisposing syndrome 2017-03-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000313849 SCV000718363 likely benign not specified 2017-09-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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