ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.570C>T (p.His190=)

gnomAD frequency: 0.00001  dbSNP: rs1028581867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413249 SCV001615360 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488229 SCV002803063 likely benign Hermansky-Pudlak syndrome 1 2021-07-13 criteria provided, single submitter clinical testing

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