Submissions for variant NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)

gnomAD frequency: 0.00426  dbSNP: rs7914192

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000282732	SCV000359679	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000887877	SCV001031466	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699294	SCV002547899	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001280126	SCV001467279	benign	Hermansky-Pudlak syndrome	2020-07-19	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699294	SCV001923737	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699294	SCV001966542	benign	not specified		no assertion criteria provided	clinical testing