ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) (rs145470784)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190015 SCV000243687 likely benign not specified 2018-03-06 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 RCV001086061 SCV000544309 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561674 SCV000675507 likely benign Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing Insufficient evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000460205 SCV001156189 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148919 SCV000190675 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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