ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1837+10G>A

gnomAD frequency: 0.00001  dbSNP: rs1028071929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438216 SCV001641087 likely benign Hermansky-Pudlak syndrome 2 2023-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699382 SCV005202197 likely benign not specified 2024-07-01 criteria provided, single submitter clinical testing

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