ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)

gnomAD frequency: 0.18606  dbSNP: rs4532349
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Total submissions: 7
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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 RCV000155462 SCV000205153 benign not specified 2013-06-13 criteria provided, single submitter clinical testing Benign based on MAF (12-22% in ESP populations)
PreventionGenetics, part of Exact Sciences RCV000155462 SCV000309765 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306736 SCV000458309 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001520310 SCV001729374 benign Hermansky-Pudlak syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001618311 SCV001843695 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000155462 SCV004102237 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 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001618311 SCV002074574 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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