ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.892+50C>T

gnomAD frequency: 0.00471  dbSNP: rs62225294
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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) RCV000081183 SCV000113091 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081183 SCV000310650 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001563561 SCV001786531 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081183 SCV000193519 likely benign not specified no assertion criteria provided clinical testing

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