ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.1635-4C>G

gnomAD frequency: 0.00184  dbSNP: rs79009787
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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 RCV000215907 SCV000269153 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 1635-4C>G in intron 13 of HPS5: 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 6.7% (13/194) of Han Chinese chromosomes from a b road population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/project s/SNP; dbSNP rs79009787).
PreventionGenetics, part of Exact Sciences RCV000215907 SCV000316729 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323523 SCV000369621 benign Hermansky-Pudlak syndrome 5 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 RCV000879341 SCV001022363 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000879341 SCV002576023 likely benign not provided 2021-02-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000879341 SCV005317684 benign not provided criteria provided, single submitter not provided

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