ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.572T>C (p.Met191Thr)

gnomAD frequency: 0.00002  dbSNP: rs782244432
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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 RCV001309088 SCV001498570 likely benign X-linked Emery-Dreifuss muscular dystrophy 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350560 SCV002649658 likely benign Cardiovascular phenotype 2024-10-27 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. RCV001835515 SCV002084699 uncertain significance Emery-Dreifuss muscular dystrophy 2021-08-05 no assertion criteria provided clinical testing

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