ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.848+7G>A (rs45442896)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125706 SCV000169171 benign not specified 2013-03-04 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.
Invitae RCV000205344 SCV000261568 benign Tuberous sclerosis 2 2018-01-22 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210774 SCV000267096 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125706 SCV000305258 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042659 SCV000395567 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042659 SCV000066454 not provided Tuberous sclerosis syndrome no assertion provided curation

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