ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) (rs144997264)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228821 SCV000285328 benign Tuberous sclerosis 2 2017-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566737 SCV000675557 likely benign Hereditary cancer-predisposing syndrome 2015-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000605210 SCV000716919 likely benign not specified 2017-07-21 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) RCV000055525 SCV000083748 not provided Tuberous sclerosis syndrome no assertion provided curation

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