ClinVar Miner

Submissions for variant NM_001927.4(DES):c.933C>T (p.Asn311=)

gnomAD frequency: 0.00002  dbSNP: rs756434148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000862243 SCV000723084 likely benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619044 SCV000736425 likely benign Cardiovascular phenotype 2017-06-16 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.
Invitae RCV001448677 SCV001651774 likely benign Desmin-related myofibrillar myopathy 2021-11-20 criteria provided, single submitter clinical testing

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