ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.1899C>T (p.Val633=)

gnomAD frequency: 0.01542  dbSNP: rs35993959
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Total submissions: 5
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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 RCV000216729 SCV000269150 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val633Val in exon 13 of HPS4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 5.2% (230/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs35993959).
PreventionGenetics, part of Exact Sciences RCV000216729 SCV000313936 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295465 SCV000437639 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000948129 SCV001094324 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000948129 SCV001850698 benign not provided 2020-11-24 criteria provided, single submitter clinical testing

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