ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)

gnomAD frequency: 0.00587  dbSNP: rs184583062
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407275 SCV000399287 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000487949 SCV000530373 benign not provided 2020-06-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24895405, 29228253)
CeGaT Center for Human Genetics Tuebingen RCV000487949 SCV000575066 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ZNF469: BS2
Invitae RCV000487949 SCV002322337 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000407275 SCV002514255 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278438 SCV002565294 benign Ehlers-Danlos syndrome 2022-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418173 SCV002718603 benign Cardiovascular phenotype 2019-01-04 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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