ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2220+4C>G (rs781186613)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422189 SCV000521318 likely benign not specified 2017-01-09 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.
Ambry Genetics RCV000574046 SCV000675475 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-26 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727502 SCV000709197 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001079788 SCV000765859 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing

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