ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5097G>C (p.Val1699=) (rs397515314)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554513 SCV000644604 benign Tuberous sclerosis 2 2017-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571268 SCV000664601 likely benign Hereditary cancer-predisposing syndrome 2016-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Tuberous sclerosis database (TSC2) RCV000055362 SCV000083582 not provided Tuberous sclerosis syndrome no assertion provided curation

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