ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)

gnomAD frequency: 0.00403  dbSNP: rs146789160
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513330 SCV000528238 benign not provided 2019-09-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24895405)
CeGaT Center for Human Genetics Tuebingen RCV000513330 SCV000608788 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ZNF469: BP4
Eurofins Ntd Llc (ga) RCV000438008 SCV000704115 benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000513330 SCV002371162 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244912 SCV002514312 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279195 SCV002565403 likely benign Ehlers-Danlos syndrome 2022-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393012 SCV002674313 benign Cardiovascular phenotype 2019-03-01 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000438008 SCV001809147 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513330 SCV001975894 likely benign not provided no assertion criteria provided clinical testing

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