ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) (rs397515046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190006 SCV000243678 likely benign not specified 2017-04-12 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.
Invitae RCV000533205 SCV000644373 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574785 SCV000675649 likely benign Hereditary cancer-predisposing syndrome 2018-09-07 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
Tuberous sclerosis database (TSC2) RCV000055272 SCV000083491 not provided Tuberous sclerosis syndrome no assertion provided curation

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