ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) (rs373818076)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086224 SCV000285477 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000435776 SCV000529111 likely benign not specified 2017-12-28 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.
Ambry Genetics RCV000570779 SCV000675463 benign Hereditary cancer-predisposing syndrome 2015-08-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000229042 SCV001150681 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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