ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu)

dbSNP: rs556638927
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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 RCV001520852 SCV001730063 benign Hermansky-Pudlak syndrome 2 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943247 SCV004758083 likely benign AP3B1-related disorder 2023-08-06 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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