ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.311A>T (p.Asp104Val)

gnomAD frequency: 0.00001  dbSNP: rs1891449262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283772 SCV001469144 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2020-09-10 no assertion criteria provided clinical testing

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