ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.223-23dup

dbSNP: rs370077957
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572682 SCV001865575 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001701198 SCV005091826 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 20% 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: 19. Only high quality variants are reported.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572682 SCV001797429 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701198 SCV001925529 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701198 SCV001980573 benign not specified no assertion criteria provided clinical testing

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