ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.267C>G (p.Gly89=)

gnomAD frequency: 0.00003  dbSNP: rs1201464258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705677 SCV000834686 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424714 SCV002744689 likely benign Cardiovascular phenotype 2020-07-17 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.
Natera, Inc. RCV001830561 SCV002084683 uncertain significance Emery-Dreifuss muscular dystrophy 2020-11-24 no assertion criteria provided clinical testing

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