ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5260-49C>T (rs13332221)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243073 SCV000305250 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829855 SCV000971587 benign not provided 2018-06-20 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) RCV000042680 SCV000066475 not provided Tuberous sclerosis syndrome no assertion provided curation

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