ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) (rs145033857)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426211 SCV000515050 benign not specified 2015-07-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000472612 SCV000556593 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576002 SCV000675524 likely benign Hereditary cancer-predisposing syndrome 2015-09-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055415 SCV000083636 not provided Tuberous sclerosis syndrome no assertion provided curation

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