ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.1637A>T (p.Glu546Val)

dbSNP: rs761726567
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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 RCV001169882 SCV001251840 uncertain significance Combined oxidative phosphorylation defect type 20 2020-05-03 criteria provided, single submitter clinical testing

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