ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) (rs201835391)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122214 SCV000243572 likely benign not specified 2015-04-15 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.
PreventionGenetics,PreventionGenetics RCV000122214 SCV000305187 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000471145 SCV000556627 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719787 SCV000850657 uncertain significance History of neurodevelopmental disorder 2018-06-22 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
ITMI RCV000122214 SCV000086435 not provided not specified 2013-09-19 no assertion provided reference population

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