ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.243C>T (p.Asp81=)

gnomAD frequency: 0.00003  dbSNP: rs150757295
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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) RCV000591828 SCV000706723 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV001088435 SCV001009706 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456307 SCV002737577 likely benign Cardiovascular phenotype 2018-12-13 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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