ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1654-10C>T

gnomAD frequency: 0.00004  dbSNP: rs754208063
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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 RCV001512091 SCV001719437 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 2024-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821811 SCV002070601 uncertain significance not specified 2018-05-12 criteria provided, single submitter clinical testing

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