Submissions for variant NM_000195.5(HPS1):c.2052C>T (p.Ala684=)

gnomAD frequency: 0.00002  dbSNP: rs576260502

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193961	SCV000247568	likely benign	not specified	2015-05-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000193961	SCV000302934	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298673	SCV000359645	likely benign	Hermansky-Pudlak syndrome 1	2018-01-12	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	RCV000933569	SCV001079271	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000298673	SCV002800035	benign	Hermansky-Pudlak syndrome 1	2021-10-16	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273022	SCV001455556	benign	Hermansky-Pudlak syndrome	2020-09-16	no assertion criteria provided	clinical testing