ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2016C>T (p.Cys672=) (rs45578640)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038748 SCV000062426 benign not specified 2010-07-23 criteria provided, single submitter clinical testing Cys672Cys in exon 15 of the LDB3 gene: This variant does not not alter an amino acid residue and is not located near a splice junction. Although some base chang es that do not result in amino acid changes can be associated with disease, this variant occurs in ~1% of the general population; rs45578640) and is therefore m ost likely benign.
Invitae RCV000590797 SCV000289621 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038748 SCV000306363 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038748 SCV000336655 benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590797 SCV000698754 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619718 SCV000735052 likely benign Cardiovascular phenotype 2015-05-04 criteria provided, single submitter clinical testing

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