ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.355C>A (p.Gln119Lys)

gnomAD frequency: 0.00005  dbSNP: rs398123157
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727407 SCV000573040 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD)
Eurofins Ntd Llc (ga) RCV000727407 SCV000708277 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000687906 SCV000815498 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798859 SCV002041946 uncertain significance Cardiomyopathy 2019-10-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834570 SCV002084687 uncertain significance Emery-Dreifuss muscular dystrophy 2020-07-16 no assertion criteria provided clinical testing

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