ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.298A>G (p.Met100Val)

gnomAD frequency: 0.95957  dbSNP: rs690346
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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 RCV000242733 SCV000316753 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360705 SCV000393112 benign Amelogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683145 SCV001897361 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244718 SCV002514949 benign Amelogenesis imperfecta hypomaturation type 2A3 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683145 SCV005289327 benign not provided criteria provided, single submitter not provided

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