ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.330C>T (p.Asp110=)

gnomAD frequency: 0.01192  dbSNP: rs11547261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252042 SCV000311967 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252042 SCV000523658 benign not specified 2016-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000533737 SCV000653750 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
Breakthrough Genomics, Breakthrough Genomics RCV004717122 SCV005301659 benign not provided criteria provided, single submitter not provided

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