ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447735 SCV004175417 uncertain significance Hermansky-Pudlak syndrome 6 2022-12-22 criteria provided, single submitter clinical testing

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