ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1383= (p.Arg461=)

gnomAD frequency: 0.17126  dbSNP: rs2270419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127577 SCV000171154 benign not specified 2013-10-30 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 RCV001084394 SCV000649920 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 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710192 SCV000677421 benign not provided 2017-05-08 criteria provided, single submitter clinical testing

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