ClinVar Miner

Submissions for variant NM_022081.5(HPS4):c.1883G>A (p.Arg628His) (rs78892693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625205 SCV000744135 likely benign Hermansky-Pudlak syndrome 4 2017-06-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000379670 SCV000341486 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000379670 SCV000595170 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing

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