ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)

dbSNP: rs1419548558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV000626390 SCV000678725 likely pathogenic Waardenburg syndrome type 1 2017-03-01 criteria provided, single submitter research
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV002294350 SCV002587034 uncertain significance Waardenburg syndrome type 3 2021-12-14 criteria provided, single submitter research

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