ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=)

gnomAD frequency: 0.00001  dbSNP: rs886052398
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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 RCV000367740 SCV000399312 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556331 SCV004277198 likely benign not provided 2023-02-27 criteria provided, single submitter clinical testing

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