ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.*178T>G

gnomAD frequency: 0.19913  dbSNP: rs3816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253901 SCV000314392 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335219 SCV000360075 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.
GeneDx RCV001610733 SCV001841084 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610733 SCV005322315 benign not provided criteria provided, single submitter not provided

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