ClinVar Miner

Submissions for variant NM_015103.3(PLXND1):c.1578C>G (p.Asp526Glu)

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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 RCV003427361 SCV004155516 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing PLXND1: BS1
PreventionGenetics, part of Exact Sciences RCV003938991 SCV004754956 likely benign PLXND1-related disorder 2022-07-18 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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