Submissions for variant NM_003664.5(AP3B1):c.280-6dup

dbSNP: rs5868908

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000333905	SCV000458321	benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455024	SCV000538288	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511631	SCV001718906	benign	Hermansky-Pudlak syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001511631	SCV001775254	benign	Hermansky-Pudlak syndrome 2	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001692020	SCV001913267	benign	not provided	2018-12-26	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455024	SCV004102110	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 52% of patients studied by a panel of primary immunodeficiencies. Number of patients: 50. Only high quality variants are reported.