ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)

gnomAD frequency: 0.00002  dbSNP: rs201129618
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000678424 SCV002810291 likely pathogenic Autosomal recessive congenital ichthyosis 5 2022-05-27 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV000678424 SCV000804496 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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