ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) (rs121908904)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006744 SCV000026936 pathogenic Hermansky-Pudlak syndrome 2 1999-01-01 no assertion criteria provided literature only
GeneReviews RCV000006744 SCV000041034 pathologic Hermansky-Pudlak syndrome 2 2012-10-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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