ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1417-57dup

dbSNP: rs11414164
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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 RCV001554353 SCV001775577 benign Combined oxidative phosphorylation defect type 27 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713135 SCV001942942 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598034 SCV005091577 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 92. Only high quality variants are reported.

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