ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.103dup (p.Thr35fs)

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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 RCV003472486 SCV004204046 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-05-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005051312 SCV005674882 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 2024-04-26 criteria provided, single submitter clinical testing

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