ClinVar Miner

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

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Total submissions: 5
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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 RCV000469182 SCV000544559 benign Tuberous sclerosis 2 2018-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491612 SCV000579582 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Tuberous sclerosis database (TSC2) RCV000043208 SCV000067009 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER_CC_NCGL; University of Washington Medical Center RCV000043208 SCV000190673 uncertain significance Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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