ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.*665G>A

gnomAD frequency: 0.00863  dbSNP: rs75706884
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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 RCV000388255 SCV000399487 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694295 SCV005193606 uncertain significance not provided criteria provided, single submitter not provided

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