ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.1041-29A>G

dbSNP: rs7740535
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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 RCV001544127 SCV001763104 benign Combined oxidative phosphorylation defect type 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544128 SCV001763105 benign Leukoencephalopathy, progressive, with ovarian failure 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001638151 SCV001849586 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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