ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.1341C>A (p.Gly447=)

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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 RCV004573437 SCV005051348 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CTDP1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003944297 SCV004760385 likely benign CTDP1-related disorder 2019-03-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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