ClinVar Miner

Submissions for variant NM_022081.5(HPS4):c.250A>G (p.Ile84Val) (rs149830675)

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Total submissions: 7
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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,PreventionGenetics RCV000193321 SCV000313939 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386251 SCV000437672 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193321 SCV000701972 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625206 SCV000744136 likely benign Hermansky-Pudlak syndrome 4 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000970806 SCV001118407 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing

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