ClinVar Miner

Submissions for variant NM_052865.4(MGME1):c.86C>G (p.Ser29Cys)

gnomAD frequency: 0.00090  dbSNP: rs143811282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224547 SCV000281457 likely benign not provided 2016-05-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000602333 SCV000730789 benign not specified 2017-04-28 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 RCV000224547 SCV001034617 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977636 SCV004794020 benign MGME1-related condition 2019-06-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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