ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.729T>C (p.Asp243=)

dbSNP: rs753243743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617357 SCV000738265 likely benign Cardiovascular phenotype 2017-12-16 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.
Color Diagnostics, LLC DBA Color Health RCV001176482 SCV001340471 likely benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003581699 SCV004332335 likely benign Charcot-Marie-Tooth disease type 2 2025-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002712 SCV004846602 likely benign Primary dilated cardiomyopathy 2024-06-09 criteria provided, single submitter clinical testing

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