ClinVar Miner

Submissions for variant NM_001130682.3(GUCY1A1):c.332_333GA[1] (p.Glu112fs) (rs781020381)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000677375 SCV000803638 pathogenic Moyamoya disease 6 with achalasia 2018-08-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755173 SCV000882998 pathogenic Moyamoya disease 1 no assertion criteria provided research

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