ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1186T>C (p.Leu396=)

gnomAD frequency: 0.00002  dbSNP: rs574476271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521273 SCV001730583 benign Hermansky-Pudlak syndrome 2 2023-12-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261372 SCV002542723 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940957 SCV004755295 likely benign AP3B1-related disorder 2019-06-27 criteria provided, single submitter 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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