ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.728+1del

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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 RCV004795857 SCV005418732 likely pathogenic DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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