Submissions for variant NM_000481.4(AMT):c.631G>A (p.Glu211Lys)

gnomAD frequency: 0.00735  dbSNP: rs116192290

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549987	SCV000636427	benign	Non-ketotic hyperglycinemia	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000549987	SCV000743157	likely benign	Non-ketotic hyperglycinemia	2014-10-09	criteria provided, single submitter	clinical testing
Mendelics	RCV000549987	SCV001136523	likely benign	Non-ketotic hyperglycinemia	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991518	SCV001143008	benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000991518	SCV001153957	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	AMT: BS1, BS2
Illumina Laboratory Services, Illumina	RCV000549987	SCV001311639	likely benign	Non-ketotic hyperglycinemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV000549987	SCV001762853	likely benign	Non-ketotic hyperglycinemia	2021-07-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000549987	SCV000734285	benign	Non-ketotic hyperglycinemia		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000549987	SCV001456314	benign	Non-ketotic hyperglycinemia	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573069	SCV001798398	benign	not specified		no assertion criteria provided	clinical testing