Submissions for variant NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)

gnomAD frequency: 0.00169  dbSNP: rs116750638

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000219297	SCV000279113	benign	not provided	2017-01-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084287	SCV000290180	benign	Charcot-Marie-Tooth disease type 4	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000219297	SCV000614130	benign	not provided	2019-04-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001112850	SCV001270554	uncertain significance	Charcot-Marie-Tooth disease type 4B1	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172718	SCV001335784	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001112850	SCV001472296	benign	Charcot-Marie-Tooth disease type 4B1	2022-04-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000219297	SCV004131320	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MTMR2: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000219297	SCV001921663	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000219297	SCV001930817	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929922	SCV004739490	benign	MTMR2-related disorder	2019-06-25	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).