ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1081del (p.Ala361fs)

dbSNP: rs1905872842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV001260231 SCV001437198 likely pathogenic Brittle cornea syndrome 1 2020-08-01 criteria provided, single submitter clinical testing

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