ClinVar Miner

Submissions for variant NM_000548.4(TSC2):c.552C>T (p.Val184=) (rs199991910)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566695 SCV000675531 likely benign Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000431095 SCV000515617 likely benign not specified 2017-08-25 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.
Illumina Clinical Services Laboratory,Illumina RCV000289780 SCV000395561 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467132 SCV000556555 benign Tuberous sclerosis 2 2017-12-21 criteria provided, single submitter clinical testing

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