ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)

gnomAD frequency: 0.01153  dbSNP: rs74384633
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333754 SCV000399297 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001514436 SCV000730943 benign not provided 2019-03-11 criteria provided, single submitter clinical testing
Invitae RCV001514436 SCV001722281 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000333754 SCV002514262 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278443 SCV002565310 benign Ehlers-Danlos syndrome 2022-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429272 SCV002743086 benign Cardiovascular phenotype 2019-05-15 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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