ClinVar Miner

Submissions for variant NM_001128431.4(SLC39A14):c.457+45G>T

gnomAD frequency: 0.43048  dbSNP: rs3817445
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616783 SCV001838088 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810138 SCV002056960 benign Hyperostosis cranialis interna 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810137 SCV002056971 benign Hypermanganesemia with dystonia 2 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598047 SCV005091898 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 71% 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: 66. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001616783 SCV005266679 benign not provided criteria provided, single submitter not provided

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