ClinVar Miner

Submissions for variant NM_138395.4(MARS2):c.60C>T (p.Leu20=)

gnomAD frequency: 0.00011  dbSNP: rs201033319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000677086 SCV000728676 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Invitae RCV000677086 SCV001036007 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953079 SCV004778017 likely benign MARS2-related condition 2019-12-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000677086 SCV000802925 likely benign not provided 2017-12-28 no assertion criteria provided clinical testing

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