ClinVar Miner

Submissions for variant NM_020745.4(AARS2):c.1189-16_1189-14del

dbSNP: rs144914586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359416 SCV000463663 likely benign Combined oxidative phosphorylation deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001522961 SCV000581697 benign not provided 2018-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522961 SCV001732601 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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