ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1158-12C>G

gnomAD frequency: 0.00002  dbSNP: rs372934817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182607 SCV001348119 likely benign Cardiomyopathy 2019-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068323 SCV002462145 likely benign Charcot-Marie-Tooth disease type 2 2024-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380863 SCV004088754 likely benign Cardiovascular phenotype 2023-09-07 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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