ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.171C>T (p.Ser57=)

gnomAD frequency: 0.00004  dbSNP: rs900267221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421335 SCV000522008 likely benign not specified 2018-01-17 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.
Eurofins Ntd Llc (ga) RCV000726639 SCV000701889 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Invitae RCV001400969 SCV001602780 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411328 SCV002715986 likely benign Cardiovascular phenotype 2020-02-27 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. RCV001828412 SCV002084676 likely benign Emery-Dreifuss muscular dystrophy 2020-04-11 no assertion criteria provided clinical testing

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