ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.280-14C>T (rs183195960)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441002 SCV000517719 likely benign not specified 2017-12-18 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 RCV001174279 SCV001337409 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285868 SCV001472370 benign none provided 2019-08-30 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000441002 SCV001923821 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702644 SCV001927782 likely benign not provided no assertion criteria provided clinical testing

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