ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)

gnomAD frequency: 0.00528  dbSNP: rs77951481
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000512833 SCV000224313 uncertain significance not provided 2014-12-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281876 SCV000399302 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000512833 SCV000532246 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512833 SCV000608781 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ZNF469: BP4, BS2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000173218 SCV000864303 likely benign not specified 2017-08-22 criteria provided, single submitter clinical testing BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
Labcorp Genetics (formerly Invitae), Labcorp RCV000512833 SCV002402563 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277327 SCV002565313 benign Ehlers-Danlos syndrome 2022-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426825 SCV002741424 likely benign Cardiovascular phenotype 2019-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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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