ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.250A>G (p.Ile84Val)

gnomAD frequency: 0.00306  dbSNP: rs149830675
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193321 SCV000247573 uncertain significance not specified 2015-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000193321 SCV000313939 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386251 SCV000437672 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000193321 SCV000701972 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000193321 SCV000711325 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing p.Ile84Val in exon 4 of HPS4: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (400/66734) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs149830675).
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625206 SCV000744136 likely benign Hermansky-Pudlak syndrome 4 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000970806 SCV001118407 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000625206 SCV001548509 benign Hermansky-Pudlak syndrome 4 2021-03-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000193321 SCV001921618 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000970806 SCV001930339 likely benign not provided no assertion criteria provided clinical testing

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