ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)

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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 RCV001197936 SCV001368720 likely benign Congenital cataracts-facial dysmorphism-neuropathy syndrome 2018-11-21 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PM2,BP1,BP4.

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