ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1743G>A (p.Gly581=)

gnomAD frequency: 0.00003  dbSNP: rs755254043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725100 SCV000334008 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000302233 SCV000718656 likely benign not specified 2017-04-20 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.
CeGaT Center for Human Genetics Tuebingen RCV000725100 SCV004130194 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing POMT2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003765594 SCV004589290 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-09-04 criteria provided, single submitter clinical testing

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