ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1138T>C (p.Leu380=)

gnomAD frequency: 0.00001  dbSNP: rs1215331296
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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 RCV001452150 SCV001655805 likely benign Charcot-Marie-Tooth disease type 2 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322491 SCV002606675 likely benign Cardiovascular phenotype 2022-08-08 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 RCV004007050 SCV004823363 likely benign Primary dilated cardiomyopathy 2023-09-17 criteria provided, single submitter clinical testing

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