ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.954_956GTT[1] (p.Leu320del) (rs755655903)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461709 SCV000552378 likely benign Tuberous sclerosis 1 2019-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000480298 SCV000572752 likely benign not specified 2017-01-11 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 RCV001019502 SCV001180870 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-13 criteria provided, single submitter clinical testing Insufficient evidence
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000781950 SCV000920394 uncertain significance Seizures 2017-08-11 no assertion criteria provided clinical testing

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