ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)

dbSNP: rs1303126934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001290770 SCV001478881 likely pathogenic Hermansky-Pudlak syndrome 1 2020-11-13 no assertion criteria provided clinical testing

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