ClinVar Miner

Submissions for variant NM_001927.4(DES):c.822C>T (p.Leu274=)

gnomAD frequency: 0.00001  dbSNP: rs763599850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292844 SCV000337969 uncertain significance not provided 2015-12-24 criteria provided, single submitter clinical testing
Invitae RCV001078951 SCV000773409 likely benign Desmin-related myofibrillar myopathy 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429223 SCV002680936 likely benign Cardiovascular phenotype 2019-05-30 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.

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