ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2209-9C>G (rs118203660)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189819 SCV000243471 likely benign not specified 2017-03-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000266169 SCV000478211 uncertain significance Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323559 SCV000478212 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233096 SCV000284697 benign Tuberous sclerosis 1 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000189819 SCV000303859 likely benign not specified criteria provided, single submitter clinical testing

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