ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.2532G>A (p.Ala844=) (rs73344102)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433326 SCV000519496 benign not specified 2016-03-03 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.
Invitae RCV000524815 SCV000655637 benign Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2020-11-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000433326 SCV001159611 benign not specified 2019-06-17 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174282 SCV001337412 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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