ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=)

dbSNP: rs886052415
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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 RCV000282944 SCV000399428 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697758 SCV000721701 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing

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