ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1801C>T (p.Leu601=)

gnomAD frequency: 0.00020  dbSNP: rs368146160
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 RCV000944311 SCV001090278 likely benign not provided 2024-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827018 SCV002090499 likely benign Hermansky-Pudlak syndrome 2020-11-03 no assertion criteria provided clinical testing

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