ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1342T>C (p.Leu448=)

gnomAD frequency: 0.00002  dbSNP: rs778753554
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 RCV000976198 SCV001124097 likely benign not provided 2023-12-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275840 SCV001461418 uncertain significance Hermansky-Pudlak syndrome 2020-02-13 no assertion criteria provided clinical testing

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