ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) (rs397515162)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435189 SCV000527242 likely benign not specified 2016-05-05 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 RCV000472689 SCV000556467 benign Tuberous sclerosis 2 2017-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566604 SCV000675528 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Tuberous sclerosis database (TSC2) RCV000055441 SCV000083662 not provided Tuberous sclerosis syndrome no assertion provided curation

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