ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) (rs370114027)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475203 SCV000544586 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566285 SCV000675502 likely benign Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing No disease association in small case-control study;Co-occurence with mutation in same gene (phase unknown)
GeneDx RCV000831461 SCV000973210 likely 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) RCV000055556 SCV000083780 not provided Tuberous sclerosis syndrome no assertion provided curation
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico RCV000475203 SCV000994608 benign Tuberous sclerosis 2 2019-09-27 no assertion criteria provided clinical testing

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