ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.*264A>G

gnomAD frequency: 0.00591  dbSNP: rs193210256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279078 SCV000399471 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001590953 SCV001815476 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing

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