ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys)

gnomAD frequency: 0.00006  dbSNP: rs188954563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002197467 SCV002354724 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277004 SCV002565299 uncertain significance Ehlers-Danlos syndrome 2021-11-12 criteria provided, single submitter clinical testing
GeneDx RCV002197467 SCV004169042 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005017113 SCV005646299 uncertain significance Brittle cornea syndrome 1 2024-04-02 criteria provided, single submitter clinical testing

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