Submissions for variant NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=)

gnomAD frequency: 0.86488  dbSNP: rs7812015

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000712255	SCV000842700	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000712255	SCV001880951	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775584	SCV002014091	benign	Nephrotic syndrome 15	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712255	SCV002466008	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117572	SCV005087294	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 92% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 86. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000712255	SCV005268425	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117572	SCV000151791	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.