ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr)

dbSNP: rs749094914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996301 SCV001150968 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000996301 SCV001905591 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing

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