ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.299C>T (p.Ala100Val) (rs375824753)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086235 SCV000644397 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575476 SCV000675461 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-09 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594514 SCV000709473 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761927 SCV000892153 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000761927 SCV000968819 likely benign not provided 2018-05-11 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.

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