ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)

gnomAD frequency: 0.00179  dbSNP: rs200668806
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001531857 SCV000570962 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24895405)
Fulgent Genetics, Fulgent Genetics RCV000765316 SCV000896572 uncertain significance Brittle cornea syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531857 SCV001747164 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ZNF469: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001531857 SCV002370065 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279246 SCV002565244 likely benign Ehlers-Danlos syndrome 2022-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420232 SCV002726030 likely benign Cardiovascular phenotype 2019-02-14 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001531857 SCV001977717 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001531857 SCV001980566 likely benign not provided no assertion criteria provided clinical testing

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