Submissions for variant NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)

gnomAD frequency: 0.02435  dbSNP: rs61884288

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150824	SCV000198359	benign	not specified	2014-11-12	criteria provided, single submitter	clinical testing	p.Thr1098Ile in exon 22 of HPS5: This variant is not expected to have clinical s ignificance because it has been identified in 3.7% (320/8586) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; dbSNP rs61884288).
PreventionGenetics, part of Exact Sciences	RCV000150824	SCV000316735	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000021032	SCV000369598	benign	Hermansky-Pudlak syndrome 5	2018-03-06	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.
Eurofins Ntd Llc (ga)	RCV000150824	SCV000855687	benign	not specified	2017-07-24	criteria provided, single submitter	clinical testing
Invitae	RCV001520026	SCV001729020	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001520026	SCV001887843	benign	not provided	2019-07-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15296495, 16420244, 17365864, 28640947, 29090612, 27884173, 22995991, 28296950, 25333069, 20981092)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150824	SCV002051041	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150824	SCV001918480	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000150824	SCV001927604	benign	not specified		no assertion criteria provided	clinical testing