ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1794C>T (p.Ser598=) (rs766438395)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087929 SCV000261567 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000828746 SCV000970446 likely benign not provided 2018-06-06 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002398 SCV001160319 likely benign not specified 2018-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013195 SCV001173747 likely benign Hereditary cancer-predisposing syndrome 2015-05-08 criteria provided, single submitter clinical testing

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