ClinVar Miner

Submissions for variant NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) (rs376668943)

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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 RCV000662079 SCV000784416 uncertain significance Distal arthrogryposis type 1A 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662080 SCV000784417 uncertain significance Nemaline myopathy 4 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662081 SCV000784418 uncertain significance Distal arthrogryposis type 2B 2018-03-05 criteria provided, single submitter clinical testing

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