ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1040+9T>A

gnomAD frequency: 0.00237  dbSNP: rs201876461
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533445 SCV000639564 benign Hermansky-Pudlak syndrome 2 2025-01-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001700142 SCV002070030 likely benign not specified 2020-01-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261104 SCV002542701 likely benign Autoinflammatory syndrome 2019-09-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700142 SCV001921643 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727742 SCV001975733 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001727742 SCV002034083 likely benign not provided no assertion criteria provided clinical testing

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