ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.2204+11G>A (rs202080192)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427227 SCV000521871 likely benign not specified 2017-12-26 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174280 SCV001337410 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000427227 SCV001921071 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702451 SCV001931006 likely benign not provided no assertion criteria provided clinical testing

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