ClinVar Miner

Submissions for variant NM_138927.4(SON):c.1416del (p.Pro473fs)

dbSNP: rs2145819270
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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 RCV002086752 SCV002320829 likely pathogenic ZTTK syndrome 2022-01-01 criteria provided, single submitter clinical testing

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