ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.198G>C (p.Ser66=)

dbSNP: rs115265574
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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 RCV000944513 SCV001090483 likely benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489276 SCV002795723 likely benign Hermansky-Pudlak syndrome 1 2022-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832175 SCV002093034 likely benign Hermansky-Pudlak syndrome 2020-02-06 no assertion criteria provided clinical testing

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