ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) (rs397514938)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567237 SCV000664669 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000604817 SCV000725721 benign not specified 2018-01-03 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.
Tuberous sclerosis database (TSC2) RCV000055121 SCV000083339 not provided Tuberous sclerosis syndrome no assertion provided curation

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