ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) (rs202187148)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189972 SCV000243643 likely benign not specified 2017-09-06 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 RCV000229745 SCV000285234 benign Tuberous sclerosis 2 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000189972 SCV000305142 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284623 SCV000395575 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710274 SCV000615881 benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563838 SCV000675499 likely benign Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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