ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3080dup (p.Glu1028fs)

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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 RCV004797510 SCV005417802 likely pathogenic 3M syndrome 2 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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