ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro)

dbSNP: rs1555520642
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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 Human Genetics, Cologne University RCV000656711 SCV000777903 uncertain significance Brittle cornea syndrome 1 no assertion criteria provided clinical testing

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