ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.259-13T>G

gnomAD frequency: 0.00008  dbSNP: rs923819811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000601031 SCV000713797 uncertain significance not specified 2017-12-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.259-13T>G var iant in NEBL has not been previously reported in individuals with cardiomyopathy . This variant has been identified in 2/17494 African chromosomes and 1/21470 La tin chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dnSNP rs 923819811). This variant is located in the 5' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, the cli nical significance of the c.259-13T>G variant is uncertain. ACMG/AMP Criteria ap plied: PM2; BP4.
Invitae RCV002062151 SCV002440457 likely benign Primary dilated cardiomyopathy 2024-01-22 criteria provided, single submitter clinical testing

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