ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.390C>T (p.Phe130=)

gnomAD frequency: 0.00003  dbSNP: rs781952981
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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 RCV001421316 SCV001623840 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365387 SCV004054998 likely benign Cardiovascular phenotype 2023-09-11 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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