ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)

gnomAD frequency: 0.00473  dbSNP: rs145178398
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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 RCV000308037 SCV000399248 likely benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000443795 SCV000531897 benign not specified 2016-12-12 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.
Invitae RCV002056509 SCV002321583 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000308037 SCV002514240 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278428 SCV002565381 benign Ehlers-Danlos syndrome 2021-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365374 SCV002656669 benign Cardiovascular phenotype 2019-01-09 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.
Fulgent Genetics, Fulgent Genetics RCV000308037 SCV002795934 likely benign Brittle cornea syndrome 1 2021-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056509 SCV003917851 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ZNF469: BP4, BS2

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