ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.672G>A (p.Pro224=)

gnomAD frequency: 0.00003  dbSNP: rs1267603257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411672 SCV001613736 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368287 SCV002666835 likely benign Cardiovascular phenotype 2019-06-16 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704533 SCV005208041 likely benign not provided criteria provided, single submitter not provided

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