ClinVar Miner

Submissions for variant NM_182978.4(GNAL):c.625-31T>G

gnomAD frequency: 0.67842  dbSNP: rs1647557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702042 SCV001933858 benign Dystonia 25 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001713693 SCV001942431 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598113 SCV005091754 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 96% 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: 89. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001713693 SCV005248961 benign not provided criteria provided, single submitter not provided

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