ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2693G>A (p.Arg898His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035036 SCV005662879 uncertain significance Hermansky-Pudlak syndrome 3 2024-06-12 criteria provided, single submitter clinical testing

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