ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.715-22C>T

gnomAD frequency: 0.36243  dbSNP: rs11575375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001530745 SCV001745642 benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658250 SCV001876583 benign Deficiency of aromatic-L-amino-acid decarboxylase 2021-07-30 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598010 SCV005091578 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 61% 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: 57. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001530745 SCV005265290 benign not provided criteria provided, single submitter not provided

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