ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=)

dbSNP: rs763317477
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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 RCV000266643 SCV000399445 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001578254 SCV001805808 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001578254 SCV002359972 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402042 SCV002708994 likely benign Cardiovascular phenotype 2019-07-15 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.
CeGaT Center for Human Genetics Tuebingen RCV001578254 SCV004138091 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ZNF469: BP4, BP7

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