ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe)

gnomAD frequency: 0.21505  dbSNP: rs17730281
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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 RCV000247021 SCV000316751 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271084 SCV000393093 likely benign Amelogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001709561 SCV001936621 benign not provided 2020-11-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22797727)
Genome-Nilou Lab RCV002244716 SCV002514944 benign Amelogenesis imperfecta hypomaturation type 2A3 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709561 SCV005214933 likely benign not provided criteria provided, single submitter not provided

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