ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.199C>T (p.Leu67=)

dbSNP: rs546531255
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 RCV000944455 SCV001090425 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275834 SCV001461412 uncertain significance Hermansky-Pudlak syndrome 2020-01-24 no assertion criteria provided clinical testing

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