ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg)

gnomAD frequency: 0.98834  dbSNP: rs1466685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520459 SCV001729561 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 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702903 SCV001933854 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703109 SCV001933855 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702110 SCV001933856 benign Autosomal recessive limb-girdle muscular dystrophy type 2T 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716736 SCV005303669 benign not provided criteria provided, single submitter not provided

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