ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) (rs45517206)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189990 SCV000243661 likely benign not specified 2017-09-25 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 RCV000233524 SCV000285261 benign Tuberous sclerosis 2 2018-01-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043039 SCV000066838 not provided Tuberous sclerosis syndrome no assertion provided curation

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