ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.303C>T (p.Ser101=)

gnomAD frequency: 0.00002  dbSNP: rs769932435
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 RCV001366028 SCV001562316 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831264 SCV002094806 uncertain significance Hermansky-Pudlak syndrome 2020-03-11 no assertion criteria provided clinical testing

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