ClinVar Miner

Submissions for variant NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile)

gnomAD frequency: 0.00009  dbSNP: rs746640449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262364 SCV001440203 uncertain significance Moyamoya disease with early-onset achalasia 2019-01-01 criteria provided, single submitter clinical testing

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