Submissions for variant NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)

gnomAD frequency: 0.00220  dbSNP: rs143527588

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000294125	SCV000340411	benign	not specified	2016-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV000640585	SCV000762179	benign	Hermansky-Pudlak syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001569162	SCV001793176	likely benign	not provided	2021-02-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000294125	SCV002069764	likely benign	not specified	2018-09-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262923	SCV002542890	likely benign	Autoinflammatory syndrome	2019-09-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001569162	SCV004162998	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	AP3B1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000294125	SCV001923181	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000294125	SCV001927807	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001569162	SCV001969718	likely benign	not provided		no assertion criteria provided	clinical testing