ClinVar Miner

Submissions for variant NM_001927.4(DES):c.12C>A (p.Ala4=)

gnomAD frequency: 0.00001  dbSNP: rs762566962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467673 SCV000562360 likely benign Desmin-related myofibrillar myopathy 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001721540 SCV000724642 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617744 SCV000736161 likely benign Cardiovascular phenotype 2017-12-12 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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