ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) (rs12115566)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712821 SCV000843355 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118035 SCV000152356 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331368 SCV000477674 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553081 SCV000649888 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118035 SCV000311748 benign not specified criteria provided, single submitter clinical testing

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