ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.2786-70G>A

gnomAD frequency: 0.27875  dbSNP: rs2252856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714370 SCV001944603 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598133 SCV005091624 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 51% 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: 47. Only high quality variants are reported.

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