ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2598+117G>C

gnomAD frequency: 0.87685  dbSNP: rs325005
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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 RCV001544123 SCV001763100 benign Combined oxidative phosphorylation defect type 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544124 SCV001763101 benign Leukoencephalopathy, progressive, with ovarian failure 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713010 SCV001944134 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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