ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.*1762G>A

gnomAD frequency: 0.00680  dbSNP: rs139974836
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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 RCV000391535 SCV000437598 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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