ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1699-8C>G (rs727503137)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150956 SCV000198619 uncertain significance not specified 2014-09-25 criteria provided, single submitter clinical testing The 1699-8C>G variant in LMNA has not been previously reported in individuals wi th cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this informatio n is not predictive enough to rule out pathogenicity. In summary, the clinical s ignificance of the 1699-8C>G variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769731 SCV000901152 uncertain significance Cardiomyopathy 2017-01-23 criteria provided, single submitter clinical testing
Invitae RCV000876929 SCV001019570 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173401 SCV001336489 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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