ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.752G>A (p.Arg251Gln) (rs2296949)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576343 SCV000677418 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081493 SCV000113424 benign not specified 2012-11-02 criteria provided, single submitter clinical testing
Invitae RCV000529405 SCV000649906 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-11-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081493 SCV000311759 benign not specified criteria provided, single submitter clinical testing

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