ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.306C>T (p.Thr102=)

gnomAD frequency: 0.00001  dbSNP: rs782579799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870764 SCV001012307 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619444 SCV005114676 likely benign Cardiovascular phenotype 2024-06-17 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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