ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1545G>A (p.Thr515=)

gnomAD frequency: 0.00001  dbSNP: rs141596696
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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 RCV000928505 SCV001074116 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489231 SCV002798657 likely benign Hermansky-Pudlak syndrome 1 2022-04-04 criteria provided, single submitter clinical testing

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