ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2838-4A>G (rs45517272)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125667 SCV000169129 benign not specified 2013-04-12 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 RCV000163282 SCV000213810 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000232920 SCV000285318 benign Tuberous sclerosis 2 2018-01-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125667 SCV000305188 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042982 SCV000395619 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042982 SCV000066780 not provided Tuberous sclerosis syndrome no assertion provided curation

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