ClinVar Miner

Submissions for variant NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)

gnomAD frequency: 0.00001  dbSNP: rs373182378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000677373 SCV000803636 pathogenic Moyamoya disease with early-onset achalasia 2018-08-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755172 SCV000882997 pathogenic Moyamoya disease 1 no assertion criteria provided research

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