ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile)

dbSNP: rs1557115091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556323 SCV001777883 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843592 SCV002103076 uncertain significance Ritscher-Schinzel syndrome 2 2022-01-26 criteria provided, single submitter clinical testing PM2

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