ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2853T>C (p.Ile951=)

gnomAD frequency: 0.00001  dbSNP: rs1263221940
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000915548 SCV001060760 likely benign Hermansky-Pudlak syndrome 2 2024-05-06 criteria provided, single submitter clinical testing

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