ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.579T>C (p.Ala193=)

gnomAD frequency: 0.00002  dbSNP: rs749728556
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621074 SCV000737875 likely benign Cardiovascular phenotype 2017-01-14 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.
Athena Diagnostics RCV000712225 SCV000842667 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173405 SCV001336493 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185528 SCV001351765 likely benign Cardiomyopathy 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV001485044 SCV001689469 likely benign Charcot-Marie-Tooth disease type 2 2024-01-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002685 SCV004845886 likely benign Primary dilated cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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