ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.*1001A>G

gnomAD frequency: 0.80892  dbSNP: rs3848234
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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 RCV000408283 SCV000399496 benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709543 SCV005249659 benign not provided criteria provided, single submitter not provided

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