ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1020G>A (p.Val340=)

gnomAD frequency: 0.00001  dbSNP: rs145787996
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002145730 SCV002453101 likely benign Hermansky-Pudlak syndrome 2 2024-04-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261455 SCV002542690 uncertain significance Autoinflammatory syndrome 2019-02-01 criteria provided, single submitter clinical testing

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