ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) (rs76784113)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,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.
Invitae RCV000470802 SCV000557437 benign Charcot-Marie-Tooth disease type 4 2019-12-31 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 Inc 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

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