ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.699+67dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472498 SCV004204078 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2022-05-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047606 SCV005674897 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2024-06-15 criteria provided, single submitter clinical testing

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