ClinVar Miner

Submissions for variant NM_022068.3(PIEZO2):c.4073C>T (p.Thr1358Met) (rs777349822)

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Total submissions: 3
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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 RCV000661997 SCV000784329 uncertain significance Marden-Walker syndrome 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661998 SCV000784330 uncertain significance Arthrogryposis, distal, with impaired proprioception and touch 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661999 SCV000784331 uncertain significance Gordon's syndrome 2018-03-05 criteria provided, single submitter clinical testing

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