ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.860-22_860-12del (rs727504602)

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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, Partners HealthCare Personalized Medicine RCV000155849 SCV000205560 uncertain significance not specified 2013-06-14 criteria provided, single submitter clinical testing The 860-22_860-12del variant in LDB3 has not been reported in individuals with c ardiomyopathy. Data from large population studies is insufficient to assess its frequency in the general population. It is located in the 5' splice region. One of 5 computational tools suggests an impact to splicing, though this information is not predictive enough to determine pathogenicity. Additional studies are nee ded to fully assess its clinical significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726215 SCV000342954 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing

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