ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1239G>A (p.Pro413=)

dbSNP: rs777125097
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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 RCV001401167 SCV001602989 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499849 SCV002810018 likely benign Hermansky-Pudlak syndrome 1 2022-03-18 criteria provided, single submitter clinical testing

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