Submissions for variant NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)

gnomAD frequency: 0.00400  dbSNP: rs113301033

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224369	SCV000280774	likely benign	not provided	2015-12-22	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago	RCV000501139	SCV000593218	likely benign	not specified	2015-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV001079836	SCV001118134	benign	Hermansky-Pudlak syndrome 2	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079836	SCV001317166	uncertain significance	Hermansky-Pudlak syndrome 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261013	SCV002542812	likely benign	Autoinflammatory syndrome	2019-12-01	criteria provided, single submitter	clinical testing