ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003236704 SCV003935190 pathogenic Autosomal recessive congenital ichthyosis 4B 2023-06-26 criteria provided, single submitter clinical testing

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