ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.859+47G>C

gnomAD frequency: 0.13647  dbSNP: rs3740346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250350 SCV000306371 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000831779 SCV000973532 benign not provided 2018-06-18 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.
Breakthrough Genomics, Breakthrough Genomics RCV000831779 SCV005317605 benign not provided criteria provided, single submitter not provided
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293347 SCV001481935 uncertain significance Dilated cardiomyopathy 1C 2014-08-19 no assertion criteria provided case-control

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