ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.987+13T>C

gnomAD frequency: 0.04438  dbSNP: rs12571249
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252491 SCV000302942 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334656 SCV000359660 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000252491 SCV000711321 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 987+13T>C in intron 11 of HPS1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 10.8% (448/4134) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs12571249).
Labcorp Genetics (formerly Invitae), Labcorp RCV001519501 SCV001728382 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001519501 SCV001937675 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519501 SCV005318443 benign not provided criteria provided, single submitter not provided

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