ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1032T>C (p.Thr344=)

gnomAD frequency: 0.00002  dbSNP: rs748370238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496732 SCV001701443 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-12-21 criteria provided, single submitter clinical testing

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