ClinVar Miner

Submissions for variant NM_001261826.3(AP3D1):c.3285C>T (p.His1095=)

gnomAD frequency: 0.00006  dbSNP: rs773829362
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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 RCV001703062 SCV003491732 likely benign not provided 2024-10-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700893 SCV001917571 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703062 SCV001932246 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703062 SCV001972030 likely benign not provided no assertion criteria provided clinical testing

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