ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)

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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 RCV002795106 SCV003028237 likely benign Hermansky-Pudlak syndrome 2 2023-05-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782959 SCV005395510 likely benign not specified 2024-09-09 criteria provided, single submitter clinical testing

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