ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.507+14G>A

gnomAD frequency: 0.00001  dbSNP: rs367821874
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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 RCV002137881 SCV002456857 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500254 SCV002811788 likely benign Hermansky-Pudlak syndrome 1 2022-05-19 criteria provided, single submitter clinical testing

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