ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.293-14_293-13del

dbSNP: rs556473698
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196236 SCV000251081 benign not specified 2014-12-09 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Illumina Laboratory Services, Illumina RCV000334706 SCV000407653 likely benign Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001795320 SCV003034891 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001795320 SCV002033897 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795320 SCV002038308 likely benign not provided no assertion criteria provided clinical testing

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