Submissions for variant NM_000391.4(TPP1):c.508+26T>A

gnomAD frequency: 0.47213  dbSNP: rs1800738

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000675463	SCV000971583	benign	not provided	2018-06-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001538072	SCV001755086	benign	Neuronal ceroid lipofuscinosis 2	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001538073	SCV001755087	benign	Autosomal recessive spinocerebellar ataxia 7	2021-07-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV004594090	SCV005087357	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 83% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 77. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000675463	SCV005322113	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675463	SCV000801150	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing