ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) (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 RCV000626396 SCV000678731 likely pathogenic Waardenburg syndrome type 1 2017-03-01 criteria provided, single submitter research
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000626396 SCV000782199 pathogenic Waardenburg syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing

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