ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) (rs200494044)

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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 RCV000163290 SCV000213818 benign Hereditary cancer-predisposing syndrome 2015-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Other data supporting benign classification
GeneDx RCV000189900 SCV000243558 benign not specified 2017-09-15 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.
Invitae RCV000205984 SCV000261806 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000189900 SCV000305165 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350114 SCV000395599 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing

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