ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=)

gnomAD frequency: 0.99726  dbSNP: rs7854035
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155534 SCV000205233 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Phe1497Phe in exon 36 of DOCK8: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.4% (38/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs7854035).
Labcorp Genetics (formerly Invitae), Labcorp RCV005089754 SCV001727201 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518498 SCV001762991 benign Combined immunodeficiency due to DOCK8 deficiency 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000155534 SCV004101856 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 RCV004712149 SCV005270477 benign not provided criteria provided, single submitter not provided

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