ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)

dbSNP: rs886039814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000256446 SCV000322800 likely pathogenic Cranioectodermal dysplasia no assertion criteria provided research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985142 SCV001133131 likely pathogenic Senior-Loken syndrome 8 2019-09-26 no assertion criteria provided clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000985142 SCV001870545 pathogenic Senior-Loken syndrome 8 2021-04-29 no assertion criteria provided research

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