ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.7344-1G>C

dbSNP: rs2105917562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002260529 SCV002540194 pathogenic Autosomal recessive congenital ichthyosis 4B no assertion criteria provided clinical testing

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