ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=)

gnomAD frequency: 0.00854  dbSNP: rs143852982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358233 SCV000399275 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697666 SCV000716253 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001697666 SCV002397173 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278435 SCV002565282 likely benign Ehlers-Danlos syndrome 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402036 SCV002705190 benign Cardiovascular phenotype 2019-02-08 criteria provided, single submitter clinical testing This alteration is classified as 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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