ClinVar Miner

Submissions for variant NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) (rs386820399)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248992 SCV000313930 benign not specified criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000787029 SCV000925941 likely benign Hermansky-Pudlak syndrome 4 2019-03-05 criteria provided, single submitter clinical testing

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