ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.148A>G (p.Met50Val) (rs140618379)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086583 SCV000285245 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243799 SCV000305150 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726243 SCV000343123 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011846 SCV001172219 likely benign Hereditary cancer-predisposing syndrome 2019-05-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification

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