ClinVar Miner

Submissions for variant NM_022081.5(HPS4):c.710C>T (p.Ala237Val) (rs77597168)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000252221 SCV000595172 likely benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000624933 SCV000743133 likely benign Hermansky-Pudlak syndrome 4 2015-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340421 SCV000437663 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000252221 SCV000313945 benign not specified criteria provided, single submitter clinical testing

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