ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.99A>G (p.Arg33=)

gnomAD frequency: 0.00234  dbSNP: rs139591041
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150829 SCV000198364 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg33Arg in exon 1 of HPS6: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.8% (20/2358) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs139591041).
PreventionGenetics, part of Exact Sciences RCV000150829 SCV000314399 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000150829 SCV000332058 benign not specified 2015-06-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339141 SCV000360055 benign Hermansky-Pudlak syndrome 6 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 RCV000952682 SCV001099201 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000952682 SCV005322311 benign not provided criteria provided, single submitter not provided

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