ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) (rs368712041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727389 SCV000531953 likely benign not provided 2019-11-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 10732801)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727389 SCV000708131 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001080132 SCV000765835 benign Tuberous sclerosis 2 2020-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717160 SCV000848008 likely benign History of neurodevelopmental disorder 2017-10-04 criteria provided, single submitter clinical testing RNA Studies;Synonymous alterations with insufficient evidence to classify as benign

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