ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1426-78T>C

gnomAD frequency: 0.15684  dbSNP: rs1800723
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538064 SCV001755078 benign Neuronal ceroid lipofuscinosis 2 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538065 SCV001755079 benign Autosomal recessive spinocerebellar ataxia 7 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001712987 SCV001940239 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594326 SCV005087758 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 39% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 36. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001712987 SCV005322103 benign not provided criteria provided, single submitter not provided

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