ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2448-8dup

dbSNP: rs3217698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246326 SCV000317117 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294364 SCV000406650 benign Familial hemophagocytic lymphohistiocytosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512680 SCV001720138 benign Familial hemophagocytic lymphohistiocytosis 3 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000246326 SCV004234096 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 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 19. Only high quality variants are reported.

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