ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)

gnomAD frequency: 0.86290  dbSNP: rs1894706
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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 RCV000150819 SCV000198354 benign not specified 2013-02-21 criteria provided, single submitter clinical testing His606Tyr in exon 12 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 24.6% (1084/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs1894706).
PreventionGenetics, part of Exact Sciences RCV000150819 SCV000313933 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310549 SCV000437642 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001519474 SCV001728348 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001519474 SCV001864169 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701770 SCV001933094 benign Hermansky-Pudlak syndrome 4 2021-08-10 criteria provided, single submitter clinical testing

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