ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2522G>A (p.Arg841His)

gnomAD frequency: 0.00049  dbSNP: rs780358670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241949 SCV001415005 likely benign Dyskeratosis congenita 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001558827 SCV001780851 uncertain significance not provided 2023-04-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001807394 SCV002055590 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819943 SCV002071289 uncertain significance not specified 2019-10-01 criteria provided, single submitter clinical testing

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