ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)

gnomAD frequency: 0.00003  dbSNP: rs750066836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255072 SCV000321401 likely pathogenic not provided 2023-06-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25998749, 31046801, 31589614, 37294112, 33435499)
Baylor Genetics RCV001289511 SCV001522023 pathogenic Autosomal recessive congenital ichthyosis 2 2019-10-04 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Mendelics RCV001289511 SCV002516221 likely pathogenic Autosomal recessive congenital ichthyosis 2 2022-05-04 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV001289511 SCV001477384 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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