ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) (rs139779505)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189946 SCV000243613 likely benign not specified 2018-01-16 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 RCV000226075 SCV000285442 benign Tuberous sclerosis 2 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000189946 SCV000305239 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000189946 SCV000615922 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564969 SCV000664683 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Co-occurence with mutation in same gene (phase unknown)
Tuberous sclerosis database (TSC2) RCV000055187 SCV000083405 not provided Tuberous sclerosis syndrome no assertion provided curation

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