ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) (rs138184483)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000592528 SCV000561789 benign not provided 2020-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568751 SCV000675208 likely benign Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592528 SCV000704089 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing

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