ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.*97CA[22]

dbSNP: rs113015797
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398719 SCV000441574 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001584051 SCV001812646 likely benign not provided 2019-10-06 criteria provided, single submitter clinical testing

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