ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.646G>A (p.Gly216Arg)

gnomAD frequency: 0.00026  dbSNP: rs147920229
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732781 SCV000714790 likely benign not provided 2018-11-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Labcorp Genetics (formerly Invitae), Labcorp RCV001089148 SCV000759705 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732781 SCV000860767 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354186 SCV002654750 likely benign Cardiovascular phenotype 2020-08-25 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035111 SCV000058751 uncertain significance not specified 2009-05-29 no assertion criteria provided clinical testing

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