ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.1654G>A (p.Val552Met)

gnomAD frequency: 0.81665  dbSNP: rs5752330
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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 RCV000150820 SCV000198355 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val552Met in exon 11 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 31.2% (1373/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs5752330).
Preventiongenetics, part of Exact Sciences RCV000150820 SCV000313932 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267065 SCV000437647 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001519475 SCV001728349 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001519475 SCV001915137 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701684 SCV001933095 benign Hermansky-Pudlak syndrome 4 2021-08-10 criteria provided, single submitter clinical testing

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