ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1599-15A>G

gnomAD frequency: 0.21496  dbSNP: rs2296435
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153370 SCV000202854 benign not specified 2014-02-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153370 SCV000205242 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1599-15A>G in intron 16 of HPS1: This variant is not expected to have clinical s ignificance because it has been identified in 24.0% (2061/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs2296435).
PreventionGenetics, part of Exact Sciences RCV000153370 SCV000302929 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270401 SCV000359653 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 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 RCV001523601 SCV001733333 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000270401 SCV001754921 benign Hermansky-Pudlak syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001523601 SCV001830380 benign not provided 2019-04-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523601 SCV005318429 benign not provided criteria provided, single submitter not provided

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