ClinVar Miner

Submissions for variant NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met)

gnomAD frequency: 0.00001  dbSNP: rs760428119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092407 SCV001248910 pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001289945 SCV005652829 likely pathogenic Autosomal recessive congenital ichthyosis 2 2024-02-16 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Medical Center Freiburg RCV001289945 SCV001477950 pathogenic Autosomal recessive congenital ichthyosis 2 2021-01-07 no assertion criteria provided clinical testing

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