ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1048-110A>C

dbSNP: rs4072823
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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 RCV001544279 SCV001763290 benign Autosomal recessive DOPA responsive dystonia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001619966 SCV001847060 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598022 SCV005091765 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 RCV001619966 SCV005321287 benign not provided criteria provided, single submitter not provided

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