ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter)

gnomAD frequency: 0.00006  dbSNP: rs762667660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484186 SCV000569476 pathogenic not provided 2023-02-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34908195, 24397709, 30011118)
Institute for Human Genetics, University Medical Center Freiburg RCV000678422 SCV000804494 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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