ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.42G>A (p.Ala14=)

gnomAD frequency: 0.00001  dbSNP: rs777460187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619598 SCV000738186 likely benign Cardiovascular phenotype 2017-10-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001499333 SCV001704095 likely benign Charcot-Marie-Tooth disease type 2 2023-08-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532204 SCV004359082 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing

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