ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1323C>T (p.Ala441=)

dbSNP: rs140194535
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189053 SCV001356248 likely benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001402439 SCV001604288 likely benign Charcot-Marie-Tooth disease type 2 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379730 SCV002689003 likely benign Cardiovascular phenotype 2021-05-27 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.
All of Us Research Program, National Institutes of Health RCV004010329 SCV004821386 likely benign Primary dilated cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing

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