ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.261-2A>G

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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 RCV004795356 SCV005415640 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Strong

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