ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) (rs146503597)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176654 SCV000228345 likely benign not specified 2015-05-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329160 SCV000458278 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000176654 SCV000593216 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV001081656 SCV000639575 benign Hermansky-Pudlak syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000528392 SCV001154428 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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