ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.582A>C (p.Ser194=)

gnomAD frequency: 0.00001  dbSNP: rs781933286
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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 RCV000975849 SCV001123740 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354866 SCV002648303 likely benign Cardiovascular phenotype 2022-04-21 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. RCV001271617 SCV001452893 likely benign Emery-Dreifuss muscular dystrophy 2020-09-16 no assertion criteria provided clinical testing

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