ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)

gnomAD frequency: 0.00669  dbSNP: rs139344924
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195042 SCV000246421 likely benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341119 SCV000458284 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527170 SCV000639572 benign Hermansky-Pudlak syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000195042 SCV000711280 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Phe887Leu in exon 23 of AP3B1: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (99/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs139344924).
Johns Hopkins Genomics, Johns Hopkins University RCV000527170 SCV000925948 benign Hermansky-Pudlak syndrome 2 2019-03-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262782 SCV002542879 benign Autoinflammatory syndrome 2021-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001530067 SCV003916951 benign not provided 2024-11-01 criteria provided, single submitter clinical testing AP3B1: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530067 SCV001744641 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000195042 SCV001927383 benign not specified no assertion criteria provided clinical testing

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