ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.339+9A>G

gnomAD frequency: 0.73805  dbSNP: rs690337
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247304 SCV000316754 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305918 SCV000393111 benign Amelogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001597030 SCV001832153 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244719 SCV002514948 benign Amelogenesis imperfecta hypomaturation type 2A3 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597030 SCV005289326 benign not provided criteria provided, single submitter not provided

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