ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) (rs45473098)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724630 SCV000229303 uncertain significance not provided 2015-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000177445 SCV000523847 likely benign not specified 2016-02-09 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 RCV001086436 SCV000544304 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565521 SCV000675462 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign)
Tuberous sclerosis database (TSC2) RCV000043020 SCV000066818 not provided Tuberous sclerosis syndrome no assertion provided curation

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