ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) (rs765230689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595731 SCV000708878 pathogenic not provided 2017-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763189 SCV000893801 pathogenic 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 2018-10-31 criteria provided, single submitter clinical testing

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