ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.573G>A (p.Thr191=)

gnomAD frequency: 0.00003  dbSNP: rs775798814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002165204 SCV002337816 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 2024-03-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434387 SCV004147428 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing GMPPB: BP4, BP7

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