ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) (rs121908385)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000005597 SCV000040525 pathologic Hermansky-Pudlak syndrome 1 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851731 SCV000899584 likely pathogenic Hermansky-Pudlak syndrome 2019-02-01 criteria provided, single submitter research
OMIM RCV000005597 SCV000025779 pathogenic Hermansky-Pudlak syndrome 1 1998-03-01 no assertion criteria provided literature only

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