ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2073C>T (p.Arg691=) (rs45512398)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125659 SCV000169121 benign not specified 2014-05-27 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 RCV000163440 SCV000213987 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
Invitae RCV000233055 SCV000285275 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042980 SCV000395602 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042980 SCV000066777 not provided Tuberous sclerosis syndrome no assertion provided curation

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