Submissions for variant NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)

gnomAD frequency: 0.00069  dbSNP: rs76784113

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094172	SCV000374985	likely benign	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470802	SCV000557437	benign	Charcot-Marie-Tooth disease type 4	2025-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000608107	SCV000729058	benign	not specified	2017-02-08	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	RCV001094172	SCV001473174	benign	Charcot-Marie-Tooth disease type 4B1	2019-07-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288251	SCV001475226	benign	not provided	2020-03-11	criteria provided, single submitter	clinical testing
Inherited Neuropathy Consortium	RCV000790126	SCV000929517	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only