Submissions for variant NM_000156.6(GAMT):c.460-31G>A

gnomAD frequency: 0.14411  dbSNP: rs55776826

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000829815	SCV000971547	benign	not provided	2018-06-16	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000020143	SCV001159413	benign	Deficiency of guanidinoacetate methyltransferase	2018-12-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020143	SCV001761401	benign	Deficiency of guanidinoacetate methyltransferase	2021-07-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV004597730	SCV005091723	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 31% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 29. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000829815	SCV005308903	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020143	SCV000040469	not provided	Deficiency of guanidinoacetate methyltransferase		no assertion provided	literature only