ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.662G>T (p.Arg221Leu)

gnomAD frequency: 0.00002  dbSNP: rs782057378
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725045 SCV000333496 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
GeneDx RCV000331953 SCV000723611 likely benign not specified 2017-10-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001446491 SCV001649538 likely benign X-linked Emery-Dreifuss muscular dystrophy 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365299 SCV002661891 likely benign Cardiovascular phenotype 2021-09-15 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. RCV001833317 SCV002084712 likely benign Emery-Dreifuss muscular dystrophy 2020-09-14 no assertion criteria provided clinical testing

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