ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.402C>T (p.Ser134=)

gnomAD frequency: 0.00018  dbSNP: rs144761256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245540 SCV000309773 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000966415 SCV001113734 benign Hermansky-Pudlak syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262881 SCV002543043 likely benign Autoinflammatory syndrome 2021-08-30 criteria provided, single submitter clinical testing

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