ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.1324-32dup

dbSNP: rs369116404
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522218 SCV001731714 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001522218 SCV001881353 benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506634 SCV002798550 benign Hermansky-Pudlak syndrome 5 2021-10-18 criteria provided, single submitter clinical testing

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