ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3235+44_3235+55del

dbSNP: rs143483351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001579922 SCV001891328 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001528840 SCV005087679 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 41. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528840 SCV001741263 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579922 SCV001809036 likely benign not provided no assertion criteria provided clinical testing

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