ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2992+10G>A

gnomAD frequency: 0.00003  dbSNP: rs375250754
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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 RCV002082092 SCV002424094 likely benign Hermansky-Pudlak syndrome 2 2025-01-06 criteria provided, single submitter clinical testing

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