ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.942+17A>G

gnomAD frequency: 0.00009  dbSNP: rs377061172
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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 RCV002106991 SCV002330194 likely benign Hermansky-Pudlak syndrome 2 2025-01-18 criteria provided, single submitter clinical testing

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