ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1839G>A (p.Val613=)

gnomAD frequency: 0.01309  dbSNP: rs78493456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268015 SCV000393096 likely benign Amelogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502234 SCV002807497 likely benign Amelogenesis imperfecta hypomaturation type 2A3 2021-08-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705322 SCV005214935 likely benign not provided criteria provided, single submitter not provided

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