ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.714C>T (p.Val238=)

gnomAD frequency: 0.00003  dbSNP: rs782290874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000922075 SCV001067492 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363383 SCV002662327 likely benign Cardiovascular phenotype 2022-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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. RCV001832081 SCV002084714 likely benign Emery-Dreifuss muscular dystrophy 2021-04-08 no assertion criteria provided clinical testing

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