ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.2034A>G (p.Ala678=)

gnomAD frequency: 0.00058  dbSNP: rs143184324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907190 SCV001051880 benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818799 SCV002064622 likely benign not specified 2019-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416119 SCV002728246 likely benign Inborn genetic diseases 2017-07-12 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.
CeGaT Center for Human Genetics Tuebingen RCV000907190 SCV004160317 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MED23: BP4, BP7

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