ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1333+20G>T

gnomAD frequency: 0.16150  dbSNP: rs2290941
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147476 SCV000171645 benign not specified 2014-02-28 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.
PreventionGenetics,PreventionGenetics RCV000147476 SCV000315718 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000147476 SCV001467784 benign not specified 2020-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542906 SCV001761307 benign Agenesis of the corpus callosum with peripheral neuropathy 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV002055802 SCV002451382 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000147476 SCV000194912 likely benign not specified no assertion criteria provided clinical testing

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