ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.532dup (p.Gln178fs) (rs281865079)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020196 SCV000040533 pathologic Hermansky-Pudlak syndrome 1 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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