ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)

gnomAD frequency: 0.00113  dbSNP: rs147074020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698369 SCV000534690 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000436069 SCV000595009 likely benign not specified 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651281 SCV000773132 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 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698369 SCV005261414 likely benign not provided criteria provided, single submitter not provided

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