ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2793+86_2793+87insCAGA

dbSNP: rs10627820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544478 SCV001763536 benign Combined oxidative phosphorylation defect type 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544479 SCV001763537 benign Leukoencephalopathy, progressive, with ovarian failure 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001685500 SCV001899142 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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