ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.948G>A (p.Lys316=)

gnomAD frequency: 0.00001  dbSNP: rs778421025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712277 SCV000529528 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473779 SCV000559816 benign Charcot-Marie-Tooth disease type 2 2025-01-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524079 SCV001733847 benign Cardiomyopathy 2020-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374685 SCV002686951 likely benign Cardiovascular phenotype 2020-07-08 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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