ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) (rs147196739)

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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 RCV000163340 SCV000213874 likely benign Hereditary cancer-predisposing syndrome 2017-10-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: in silico models in agreement (benign),Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
GeneDx RCV000189966 SCV000243637 likely benign not specified 2017-10-05 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 RCV000229264 SCV000285466 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000189966 SCV000343871 likely benign not specified 2016-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347186 SCV000395562 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing

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