ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.486C>T (p.Asp162=) (rs45473598)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231138 SCV000285426 likely benign Tuberous sclerosis 2 2017-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563906 SCV000675619 likely benign Hereditary cancer-predisposing syndrome 2016-08-23 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) RCV000042588 SCV000066382 not provided Tuberous sclerosis syndrome no assertion provided curation

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