ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter)

dbSNP: rs186197620
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197932 SCV001368716 likely pathogenic Curry-Hall syndrome 2018-12-13 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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