ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)

gnomAD frequency: 0.00001  dbSNP: rs397514526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000032736 SCV003836375 likely pathogenic Autosomal recessive congenital ichthyosis 2 2022-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992165 SCV004811654 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing ALOX12B: PM3:Strong, PM2, PM5, PP4, PS3:Supporting
OMIM RCV000032736 SCV000056500 pathogenic Autosomal recessive congenital ichthyosis 2 2005-10-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000032736 SCV001477969 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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