ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)

gnomAD frequency: 0.01341  dbSNP: rs181077813
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354971 SCV000399315 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000611525 SCV000714102 benign not specified 2017-03-20 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 RCV002061210 SCV002401628 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000354971 SCV002514269 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278449 SCV002565321 benign Ehlers-Danlos syndrome 2020-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321994 SCV002607578 benign Cardiovascular phenotype 2019-08-12 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 RCV002061210 SCV005212238 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920367 SCV004740554 benign ZNF469-related disorder 2019-09-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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