ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) (rs115892142)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000264713 SCV000458297 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502927 SCV000593219 likely benign not specified 2016-05-09 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000787035 SCV000925949 likely benign Hermansky Pudlak syndrome 2 2019-03-20 criteria provided, single submitter clinical testing
Invitae RCV000973907 SCV001121699 benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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