ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.867+11T>C

gnomAD frequency: 0.00001  dbSNP: rs745977366
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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 RCV002197383 SCV002358558 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479867 SCV002796828 likely benign Hermansky-Pudlak syndrome 1 2021-10-31 criteria provided, single submitter clinical testing

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