ClinVar Miner

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

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Total submissions: 2
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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

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