ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1940+9G>A

gnomAD frequency: 0.00004  dbSNP: rs757142456
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 RCV000943903 SCV001089860 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827012 SCV002087171 likely benign Hermansky-Pudlak syndrome 2021-09-14 no assertion criteria provided clinical testing

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