ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.828T>C (p.Pro276=)

dbSNP: rs200706198
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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 RCV002123347 SCV002447281 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 2021-04-14 criteria provided, single submitter clinical testing

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