ClinVar Miner

Submissions for variant NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) (rs397507169)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000021031 SCV000041685 pathologic Hermansky-Pudlak syndrome 5 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000021031 SCV000586804 pathogenic Hermansky-Pudlak syndrome 5 2004-09-01 no assertion criteria provided literature only

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