Submissions for variant NM_001605.3(AARS1):c.903C>T (p.His301=)

gnomAD frequency: 0.49332  dbSNP: rs2070203

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000374249	SCV000341944	benign	not specified	2016-06-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613550	SCV000398680	benign	Charcot-Marie-Tooth disease axonal type 2N	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000382444	SCV001000331	benign	Charcot-Marie-Tooth disease type 2	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706419	SCV001156805	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001706419	SCV001857388	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10393914)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000374249	SCV005087505	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 63% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 59. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001706419	SCV005248072	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613550	SCV000733514	benign	Charcot-Marie-Tooth disease axonal type 2N		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000374249	SCV001924541	benign	not specified		no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000613550	SCV004011916	uncertain significance	Charcot-Marie-Tooth disease axonal type 2N	2016-01-06	no assertion criteria provided	literature only