ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.144C>G (p.Leu48=)

dbSNP: rs200537612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592967 SCV000706867 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001441780 SCV001644717 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395530 SCV002698097 likely benign Cardiovascular phenotype 2020-12-22 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.

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