ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.2683-20A>G

gnomAD frequency: 0.87773  dbSNP: rs325007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518137 SCV001726784 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544121 SCV001763097 benign Leukoencephalopathy, progressive, with ovarian failure 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544480 SCV001763538 benign Combined oxidative phosphorylation defect type 8 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001518137 SCV001915967 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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