ClinVar Miner

Submissions for variant NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp)

gnomAD frequency: 0.00003  dbSNP: rs756620309
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714679 SCV000845399 uncertain significance Agnathia-otocephaly complex 2018-08-07 criteria provided, single submitter clinical testing

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