ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.604T>G (p.Phe202Val)

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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 RCV004796901 SCV005416485 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+PP3_Moderate+PM3_Strong+PP4

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