ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro)

dbSNP: rs1561938413
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761537 SCV000891680 pathogenic Combined oxidative phosphorylation defect type 8 2017-12-30 criteria provided, single submitter clinical testing

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