ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) (rs137854406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431983 SCV000518365 likely benign not specified 2015-08-03 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000431983 SCV000540603 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Functional studies do not suggest impact to protein; Absent from ExAC
Invitae RCV000476314 SCV000556496 likely benign Tuberous sclerosis 2 2017-09-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043165 SCV000066964 not provided Tuberous sclerosis syndrome no assertion provided curation

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