ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.1550T>G (p.Val517Gly)

dbSNP: rs2130202692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071016 SCV002320793 likely pathogenic 8q24.3 microdeletion syndrome 2022-01-01 criteria provided, single submitter clinical testing

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