ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)

dbSNP: rs1746480237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002245311 SCV002796101 likely pathogenic Hermansky-Pudlak syndrome 2 2022-01-28 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245311 SCV002515482 likely pathogenic Hermansky-Pudlak syndrome 2 no assertion criteria provided research

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