ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2502C>G (p.Pro834=)

gnomAD frequency: 0.00001  dbSNP: rs747086403
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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 RCV000927969 SCV001073570 likely benign Hermansky-Pudlak syndrome 2 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895641 SCV004710916 likely benign AP3B1-related disorder 2020-12-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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