ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)

dbSNP: rs2060116077
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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 RCV001196801 SCV001367434 uncertain significance Congenital dyserythropoietic anemia, type II 2019-04-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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