ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1860G>A (p.Leu620=) (rs45492397)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125656 SCV000169118 benign not specified 2014-03-17 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 RCV000230736 SCV000285260 benign Tuberous sclerosis 2 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125656 SCV000305162 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726515 SCV000345179 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570009 SCV000675543 likely benign Hereditary cancer-predisposing syndrome 2016-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Tuberous sclerosis database (TSC2) RCV000042436 SCV000066227 not provided Tuberous sclerosis syndrome no assertion provided curation

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