ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.507+15C>T

gnomAD frequency: 0.00010  dbSNP: rs374761960
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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 RCV001432391 SCV001635161 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501528 SCV002808873 likely benign Hermansky-Pudlak syndrome 1 2022-03-08 criteria provided, single submitter clinical testing

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