ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) (rs45466493)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163870 SCV000214457 benign Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Other strong data supporting benign classification,Co-occurence with mutation in same gene (phase unknown)
GeneDx RCV000189919 SCV000243582 likely benign not specified 2018-02-06 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 RCV000227183 SCV000285365 benign Tuberous sclerosis 2 2017-12-24 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034651 SCV000043534 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2) RCV000054860 SCV000066832 not provided Tuberous sclerosis syndrome no assertion provided curation

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