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: 5
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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
Breakthrough Genomics, Breakthrough Genomics RCV001647058 SCV005210384 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000081174 SCV000193506 likely benign not specified no assertion criteria provided clinical testing

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