ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.884+21_884+25dup

dbSNP: rs10693502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381864 SCV000441545 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513063 SCV001720596 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001513063 SCV001857266 benign not provided 2019-10-06 criteria provided, single submitter clinical testing

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