ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3841-27T>C

gnomAD frequency: 0.51304  dbSNP: rs12648082
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001678019 SCV001894940 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243394 SCV002514835 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243393 SCV002514836 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243395 SCV002514837 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243392 SCV002514838 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001678019 SCV005299028 benign not provided criteria provided, single submitter not provided

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