ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.390+18G>A

gnomAD frequency: 0.92539  dbSNP: rs6436120
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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 RCV001513776 SCV001721456 benign Cernunnos-XLF deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001712920 SCV001940289 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399279 SCV004102166 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001712920 SCV005246529 benign not provided criteria provided, single submitter not provided

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