ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter)

dbSNP: rs1360295659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000678428 SCV000056524 pathogenic Autosomal recessive congenital ichthyosis 5 2008-02-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000678428 SCV000804502 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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