ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.723T>A (p.Val241=)

dbSNP: rs1846304734
Minimum review status: Collection method:
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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 RCV001407895 SCV001609879 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278954 SCV001466000 uncertain significance Hermansky-Pudlak syndrome 2020-04-11 no assertion criteria provided clinical testing

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