ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.3236-30C>T

gnomAD frequency: 0.41484  dbSNP: rs2076605
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554135 SCV001775312 benign Kufor-Rakeb syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554136 SCV001775313 benign Autosomal recessive spastic paraplegia type 78 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000675888 SCV001836964 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594091 SCV005087458 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 69% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 64. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000675888 SCV005285484 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675888 SCV000801614 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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