ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys)

gnomAD frequency: 0.00001  dbSNP: rs770500550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557609 SCV001779398 likely pathogenic not provided 2019-04-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31589614, 30011118, 23621129, 27735052)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000678427 SCV003915924 pathogenic Autosomal recessive congenital ichthyosis 5 2020-07-22 criteria provided, single submitter clinical testing This variant was observed in compound heterozygosity with variant NM_173483.3:c.1177_1179del
Institute for Human Genetics, University Medical Center Freiburg RCV000678427 SCV000804501 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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