ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1838-5A>G

gnomAD frequency: 0.00004  dbSNP: rs779897317
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001412396 SCV001614479 likely benign Hermansky-Pudlak syndrome 2 2023-12-17 criteria provided, single submitter clinical testing

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