ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1490A>G (p.His497Arg)

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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 RCV005031369 SCV005662225 uncertain significance Hermansky-Pudlak syndrome 1 2024-04-28 criteria provided, single submitter clinical testing

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