ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.606G>A (p.Glu202=)

gnomAD frequency: 0.00001  dbSNP: rs963378138
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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 RCV001805242 SCV002052045 likely benign Cardiomyopathy 2021-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077250 SCV002392911 likely benign Charcot-Marie-Tooth disease type 2 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163943 SCV003864681 likely benign Cardiovascular phenotype 2023-01-25 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 RCV004808127 SCV005427685 likely benign Primary dilated cardiomyopathy 2024-05-14 criteria provided, single submitter clinical testing

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