ClinVar Miner

Submissions for variant NM_018419.3(SOX18):c.712G>T (p.Glu238Ter) (rs1210062863)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron RCV000590995 SCV000590907 pathogenic Glomerulonephritis with sparse hair and telangiectases 2017-08-22 criteria provided, single submitter clinical testing This variant results in the creation of a termination codon instead of a glutamic acid at position 238 of the protein.

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