ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) (rs587778726)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545661 SCV000641624 likely benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000122195 SCV000725135 likely benign not specified 2018-01-19 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.
ITMI RCV000122195 SCV000086414 not provided not specified 2013-09-19 no assertion provided reference population

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