ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1398-9C>T

gnomAD frequency: 0.00001  dbSNP: rs773047618
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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 RCV000945198 SCV001091188 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489277 SCV002802761 likely benign Hermansky-Pudlak syndrome 1 2021-09-21 criteria provided, single submitter clinical testing

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