ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3716+46dup

gnomAD frequency: 0.51347  dbSNP: rs11096989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002245229 SCV002514826 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245228 SCV002514827 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245230 SCV002514828 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245227 SCV002514829 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing

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