ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1245C>T (p.Pro415=)

gnomAD frequency: 0.00001  dbSNP: rs879797527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398572 SCV001600346 likely benign not provided 2024-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504665 SCV002809254 likely benign Hermansky-Pudlak syndrome 1 2022-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831417 SCV002084239 likely benign Hermansky-Pudlak syndrome 2021-08-18 no assertion criteria provided clinical testing

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