ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.*97_*98insTCTCACAC

dbSNP: rs72453449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304533 SCV000441581 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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