ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=)

gnomAD frequency: 0.00001  dbSNP: rs767431034
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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 RCV000385961 SCV000399298 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003678990 SCV004424249 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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