ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1731-24T>C

gnomAD frequency: 0.03540  dbSNP: rs73399532
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081174 SCV000113082 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081174 SCV000310635 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001647058 SCV001858499 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081174 SCV000193506 likely benign not specified no assertion criteria provided clinical testing

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