ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.1071C>T (p.Pro357=)

gnomAD frequency: 0.00029  dbSNP: rs35913673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000964896 SCV001112144 benign not provided 2024-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000964896 SCV001773526 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972839 SCV004786590 likely benign PAX3-related disorder 2024-01-03 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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