ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4044C>T (p.His1348=) (rs137854084)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086992 SCV000644502 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000607727 SCV000730307 likely benign not specified 2017-02-16 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.
Ambry Genetics RCV000717614 SCV000848467 likely benign History of neurodevelopmental disorder 2016-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731867 SCV000859729 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042797 SCV000066593 not provided Tuberous sclerosis syndrome no assertion provided curation

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