ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.672dup (p.Phe225fs)

dbSNP: rs2130247180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology RCV001810515 SCV002059956 pathogenic 8q24.3 microdeletion syndrome criteria provided, single submitter clinical testing PVS1, PS2, PM2

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