ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1A>G (p.Met1Val)

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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 RCV005024675 SCV005660681 likely pathogenic Hermansky-Pudlak syndrome 1 2024-02-12 criteria provided, single submitter clinical testing

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