ClinVar Miner

Submissions for variant NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu)

gnomAD frequency: 0.00001  dbSNP: rs927435790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002282613 SCV001768714 pathogenic Portal hypertension, noncirrhotic, 2 2021-08-02 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849848 SCV002107005 likely pathogenic Portal hypertension 2021-05-06 no assertion criteria provided literature only

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