ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.399-14G>A

dbSNP: rs1260083432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Medical Genetics, Central South University RCV000851390 SCV000902481 likely pathogenic Hermansky-Pudlak syndrome 1 2019-03-26 no assertion criteria provided clinical testing

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