Submissions for variant NM_000195.5(HPS1):c.1683C>T (p.Cys561=)

gnomAD frequency: 0.00297  dbSNP: rs112337765

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153369	SCV000202853	benign	not specified	2014-02-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153369	SCV000302931	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328922	SCV000359651	likely benign	Hermansky-Pudlak syndrome 1	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.
Invitae	RCV000886799	SCV001030326	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000328922	SCV001716392	benign	Hermansky-Pudlak syndrome 1	2021-05-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000328922	SCV002796651	likely benign	Hermansky-Pudlak syndrome 1	2021-09-20	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273026	SCV001455560	benign	Hermansky-Pudlak syndrome	2020-09-16	no assertion criteria provided	clinical testing