ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) (rs148527903)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490949 SCV000579589 likely benign Hereditary cancer-predisposing syndrome 2017-07-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Subpopulation frequency in support of benign classification,Other data supporting benign classification
GeneDx RCV000122231 SCV000243698 likely benign not specified 2017-11-07 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.
ITMI RCV000122231 SCV000086454 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000350281 SCV000395642 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227253 SCV000285382 benign Tuberous sclerosis 2 2017-12-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000227253 SCV000782485 uncertain significance Tuberous sclerosis 2 2016-09-06 criteria provided, single submitter clinical testing

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