ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.129-18dup

dbSNP: rs201281724
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125113 SCV002410141 benign Hermansky-Pudlak syndrome 2 2024-01-19 criteria provided, single submitter clinical testing

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