Submissions for variant NM_022081.6(HPS4):c.2079C>T (p.Ser693=)

gnomAD frequency: 0.00002  dbSNP: rs138189133

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195097	SCV000247572	likely benign	not specified	2015-07-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000335263	SCV000437637	benign	Hermansky-Pudlak syndrome 4	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000895250	SCV001039281	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000195097	SCV002034551	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000895250	SCV002037644	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917752	SCV004731687	benign	HPS4-related disorder	2019-09-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).