ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=)

gnomAD frequency: 0.00103  dbSNP: rs376379111
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513014 SCV000528021 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513014 SCV000608790 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing ZNF469: BP4, BP7
Invitae RCV000513014 SCV002469316 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244909 SCV002514339 benign Brittle cornea syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279193 SCV002565233 likely benign Ehlers-Danlos syndrome 2020-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402173 SCV002708278 benign Cardiovascular phenotype 2019-05-01 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.

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