ClinVar Miner

Submissions for variant NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)

gnomAD frequency: 0.00001  dbSNP: rs948280864
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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 RCV000714744 SCV000845472 uncertain significance Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2018-08-07 criteria provided, single submitter clinical testing

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