ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) (rs281865076)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneReviews	RCV000020194	SCV000040529	pathologic	Hermansky-Pudlak syndrome 1	2012-10-11	no assertion criteria provided	curation	Converted during submission to Pathogenic.

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