ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)

gnomAD frequency: 0.00001  dbSNP: rs372629986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245884 SCV000310632 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000245884 SCV000595559 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726777 SCV000702974 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV001087615 SCV000761726 likely benign Muscular dystrophy-dystroglycanopathy type B6 2023-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726777 SCV004147759 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing LARGE1: BP4, BP7

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