ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2115G>A (p.Glu705=) (rs142662480)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189818 SCV000243470 benign not specified 2014-07-24 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 RCV001081924 SCV000562476 likely benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718497 SCV000849361 likely benign History of neurodevelopmental disorder 2015-09-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732642 SCV000860617 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing

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