ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)

gnomAD frequency: 0.32763  dbSNP: rs3812956
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000286597 SCV000342632 benign not specified 2016-06-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330898 SCV000399406 benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000286597 SCV000524312 benign not specified 2016-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059238 SCV002424266 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000330898 SCV002514319 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418126 SCV002679975 benign Cardiovascular phenotype 2018-12-04 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.
Breakthrough Genomics, Breakthrough Genomics RCV002059238 SCV005249644 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000330898 SCV000733536 benign Brittle cornea syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000330898 SCV000745875 benign Brittle cornea syndrome 1 2016-01-15 no assertion criteria provided clinical testing

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