ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.*107T>A

gnomAD frequency: 0.29901  dbSNP: rs11552314
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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 RCV000317532 SCV000458272 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613174 SCV001840442 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401368 SCV004102476 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 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001613174 SCV005302260 benign not provided criteria provided, single submitter not provided

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