ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.822T>C (p.Asp274=)

gnomAD frequency: 0.00277  dbSNP: rs142578153
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892169 SCV001036031 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892169 SCV001335122 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing MECOM: BP4, BP7, BS2
Genetic Services Laboratory, University of Chicago RCV001818673 SCV002066526 benign not specified 2021-04-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958232 SCV005445652 likely benign Inborn genetic diseases 2024-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003910610 SCV004725548 benign MECOM-related disorder 2020-11-16 no assertion criteria provided 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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