ClinVar Miner

Submissions for variant NM_001261826.3(AP3D1):c.463-4G>A

gnomAD frequency: 0.00324  dbSNP: rs192634153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898768 SCV001042991 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495440 SCV002799844 likely benign Hermansky-Pudlak syndrome 10 2021-08-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000898768 SCV001932974 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000898768 SCV001970767 likely benign not provided no assertion criteria provided clinical testing

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