ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.586+52C>A

dbSNP: rs201251689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289113 SCV001476720 benign not specified 2020-03-27 criteria provided, single submitter clinical testing
GeneDx RCV001534241 SCV001751147 likely benign not provided 2020-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963190 SCV004785695 likely benign PAX3-related disorder 2021-10-27 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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