ClinVar Miner

Submissions for variant NM_018648.3(NOP10):c.-95T>C

gnomAD frequency: 0.13873  dbSNP: rs2169480
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000352550 SCV000483505 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001675890 SCV001895424 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488577 SCV004233729 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001675890 SCV005214389 likely benign not provided criteria provided, single submitter not provided

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