ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.759C>T (p.Asn253=)

gnomAD frequency: 0.00002  dbSNP: rs1032078654
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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 RCV001406444 SCV001608398 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 2022-03-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432885 SCV004147425 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing GMPPB: BP4, BP7

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