ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) (rs778352969)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724868 SCV000332089 uncertain significance not provided 2015-06-15 criteria provided, single submitter clinical testing
Invitae RCV001081872 SCV000556537 benign Tuberous sclerosis 2 2020-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000724868 SCV000730293 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020105 SCV001181538 likely benign Hereditary cancer-predisposing syndrome 2015-11-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286119 SCV001472645 likely benign none provided 2020-06-09 criteria provided, single submitter clinical testing

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