ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1350A>T (p.Ser450=)

dbSNP: rs750632019
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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 RCV002129170 SCV002455365 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 2022-11-15 criteria provided, single submitter clinical testing

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