ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.618C>T (p.Ile206=)

gnomAD frequency: 0.00002  dbSNP: rs782496874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863749 SCV001004459 benign X-linked Emery-Dreifuss muscular dystrophy 2024-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001638001 SCV001849849 benign not provided 2020-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352515 SCV002655849 likely benign Cardiovascular phenotype 2019-02-21 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.
Natera, Inc. RCV001830870 SCV002084707 benign Emery-Dreifuss muscular dystrophy 2020-04-11 no assertion criteria provided clinical testing

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