ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.177del (p.Lys59fs)

dbSNP: rs869312838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261009 SCV002542790 pathogenic Autoinflammatory syndrome 2019-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000210288 SCV004197040 pathogenic Hermansky-Pudlak syndrome 2 2023-02-26 criteria provided, single submitter clinical testing
Blood Cell Research, Sanquin RCV000210288 SCV000266374 pathogenic Hermansky-Pudlak syndrome 2 2016-01-01 no assertion criteria provided research

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