Submissions for variant NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)

gnomAD frequency: 0.00200  dbSNP: rs115892142

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000787035	SCV000458297	likely benign	Hermansky-Pudlak syndrome 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000502927	SCV000593219	likely benign	not specified	2016-05-09	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000787035	SCV000925949	likely benign	Hermansky-Pudlak syndrome 2	2019-03-20	criteria provided, single submitter	clinical testing
Invitae	RCV000787035	SCV001121699	benign	Hermansky-Pudlak syndrome 2	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263645	SCV002543267	likely benign	Autoinflammatory syndrome	2020-07-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727702	SCV002544951	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	AP3B1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000502927	SCV001918677	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000502927	SCV001928661	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727702	SCV001975421	likely benign	not provided		no assertion criteria provided	clinical testing