ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1231+30C>G

gnomAD frequency: 0.05370  dbSNP: rs11597201
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242308 SCV000306372 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830665 SCV000972400 benign not provided 2018-06-14 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 RCV000830665 SCV005221826 likely benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242308 SCV001954759 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000242308 SCV001970185 benign not specified no assertion criteria provided clinical testing

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