ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr)

dbSNP: rs1403531884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513175 SCV000608885 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV000678417 SCV000804488 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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