ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=)

gnomAD frequency: 0.00001  dbSNP: rs886052416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340333 SCV000399429 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056534 SCV002341806 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446580 SCV002683094 likely benign Cardiovascular phenotype 2019-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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