ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2112C>T (p.Gly704=)

dbSNP: rs35976098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640586 SCV000762180 benign Hermansky-Pudlak syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263875 SCV002542823 uncertain significance Autoinflammatory syndrome 2018-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945614 SCV004762014 likely benign AP3B1-related disorder 2020-03-02 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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