ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.498C>T (p.Phe166=)

gnomAD frequency: 0.00001  dbSNP: rs375340317
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002151501 SCV002463970 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494477 SCV002799935 likely benign Hermansky-Pudlak syndrome 1 2021-09-15 criteria provided, single submitter clinical testing

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