ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1527C>G (p.Leu509=)

dbSNP: rs17109850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000253950 SCV000302928 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332449 SCV000359654 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.
Invitae RCV001523424 SCV001733126 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001523424 SCV001885475 benign not provided 2019-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833259 SCV002094129 benign Hermansky-Pudlak syndrome 2019-11-26 no assertion criteria provided clinical testing

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