ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)

gnomAD frequency: 0.02452  dbSNP: rs76433453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350934 SCV000458307 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558605 SCV000639566 benign Hermansky-Pudlak syndrome 2 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001672665 SCV001888315 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261076 SCV002542712 benign Autoinflammatory syndrome 2021-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672665 SCV005222151 likely benign not provided criteria provided, single submitter not provided

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