ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) (rs45506695)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189950 SCV000243617 likely benign not specified 2016-09-20 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.
Invitae RCV000989442 SCV000544559 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491612 SCV000579582 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-12 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Mendelics RCV000989442 SCV001139768 benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043208 SCV000067009 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000043208 SCV000190673 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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