ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1861_1879del (p.Gly622fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797245 SCV005415675 likely pathogenic 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 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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