ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu) (rs200004126)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081523 SCV000262341 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024070 SCV001186026 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034666 SCV000043549 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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