ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)

gnomAD frequency: 0.89518  dbSNP: rs324136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001509832 SCV001716726 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544129 SCV001763106 benign Combined oxidative phosphorylation defect type 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544130 SCV001763107 benign Leukoencephalopathy, progressive, with ovarian failure 2021-07-14 criteria provided, single submitter clinical testing

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