ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.780dup (p.Arg261fs)

dbSNP: rs2136197089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535829 SCV001752431 pathogenic Hermansky-Pudlak syndrome 1 2021-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001535829 SCV004199970 likely pathogenic Hermansky-Pudlak syndrome 1 2022-09-27 criteria provided, single submitter clinical testing

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