ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)

gnomAD frequency: 0.00939  dbSNP: rs181785233
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351667 SCV000335772 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385051 SCV000399278 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000996359 SCV000520860 benign not provided 2018-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29111844, 25097247, 25564447)
CeGaT Center for Human Genetics Tuebingen RCV000996359 SCV001151041 benign not provided 2024-06-01 criteria provided, single submitter clinical testing ZNF469: BP4, BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000996359 SCV002430227 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000385051 SCV002514253 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000351667 SCV002548193 likely benign not specified 2022-05-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278280 SCV002565287 benign Ehlers-Danlos syndrome 2022-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002401983 SCV002714047 benign Cardiovascular phenotype 2019-01-07 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.
Breakthrough Genomics, Breakthrough Genomics RCV000996359 SCV005212229 likely benign not provided criteria provided, single submitter not provided

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