ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) (rs137853986)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189878 SCV000243531 likely benign not specified 2014-12-31 criteria provided, single submitter clinical testing The variant is found in TUBSC-EPIV2 panel(s).
Invitae RCV000540959 SCV000644683 likely benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019098 SCV001180412 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-05 criteria provided, single submitter clinical testing Insufficient evidence
Tuberous sclerosis database (TSC2) RCV000042653 SCV000066448 not provided Tuberous sclerosis syndrome no assertion provided curation

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