ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1157+15C>T

gnomAD frequency: 0.00001  dbSNP: rs761166147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173406 SCV001336494 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067847 SCV002486503 likely benign Charcot-Marie-Tooth disease type 2 2024-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032951 SCV005030785 likely benign Cardiovascular phenotype 2023-10-03 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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