ClinVar Miner

Submissions for variant NM_001927.4(DES):c.699C>T (p.Asn233=)

gnomAD frequency: 0.00009  dbSNP: rs758066814
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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 RCV000461370 SCV000562359 likely benign Desmin-related myofibrillar myopathy 2024-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001672797 SCV001888931 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367613 SCV002665188 likely benign Cardiovascular phenotype 2022-10-14 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.

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