ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.897-10G>A (rs77304928)

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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 RCV000155716 SCV000205426 uncertain significance not specified 2013-04-09 criteria provided, single submitter clinical testing The 897-10G>A variant in LDB3 has not been reported in individuals with cardiomy opathy, but has been identified in 1/194 Han Chinese chromosomes by the 1000 Gen omes Project (dbSNP rs77304928). This variant is located in the 3' splice region . Computational tools do not suggest an impact to splicing, though this informat ion is not predictive enough to rule out pathogenicity. In summary, additional s tudies are needed to fully assess the clinical significance of this variant.
Invitae RCV000229063 SCV000289630 likely benign not provided 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000155716 SCV000528619 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001481761 SCV001686111 likely benign Myofibrillar myopathy, ZASP-related 2020-01-23 criteria provided, single submitter clinical testing

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