ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=)

gnomAD frequency: 0.00003  dbSNP: rs574024256
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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 RCV000406769 SCV000399413 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000609860 SCV000726014 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000609860 SCV002437735 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278471 SCV002565420 likely benign Ehlers-Danlos syndrome 2022-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436175 SCV002676621 likely benign Cardiovascular phenotype 2022-03-03 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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