ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.951+9G>A

gnomAD frequency: 0.00059  dbSNP: rs55816606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001200164 SCV000531483 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546590 SCV000653762 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 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200164 SCV001371053 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing GMPPB: BP4, BP7

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