ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) (rs45517284)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163970 SCV000214570 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification
GeneDx RCV000122221 SCV000243574 likely benign not specified 2018-01-08 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 RCV000727358 SCV000262198 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727358 SCV000707845 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000727358 SCV001150709 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042825 SCV000066621 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122221 SCV000086442 not provided not specified 2013-09-19 no assertion provided reference population

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