ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)

gnomAD frequency: 0.00528  dbSNP: rs75248449
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Total submissions: 9
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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 RCV000155461 SCV000205152 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr439Thr in exon 13 of AP3B1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.5% (47/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs75248449).
Illumina Laboratory Services, Illumina RCV000349780 SCV000458304 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551368 SCV000639568 benign Hermansky-Pudlak syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000155461 SCV002069765 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002260996 SCV002542756 likely benign Autoinflammatory syndrome 2017-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573689 SCV004032606 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AP3B1: BP4, BP7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573689 SCV001799929 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000155461 SCV001918646 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573689 SCV001969421 likely benign not provided no assertion criteria provided clinical testing

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