ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003469800 SCV004200030 likely pathogenic Hermansky-Pudlak syndrome 3 2023-06-01 criteria provided, single submitter clinical testing
GeneDx RCV004780558 SCV005388625 uncertain significance not provided 2024-04-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 48 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Has not been previously published as pathogenic or benign to our knowledge

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