ClinVar Miner

Submissions for variant NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp)

dbSNP: rs1581265715
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Medical Center Freiburg RCV000791219 SCV000930505 pathogenic Autosomal recessive congenital ichthyosis 6 2019-05-16 no assertion criteria provided clinical testing

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