ClinVar Miner

Submissions for variant NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) (rs11558436)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423853 SCV000510833 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662087 SCV000784424 likely benign Mitochondrial complex I deficiency 2018-03-05 criteria provided, single submitter clinical testing

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