ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.954C>T (p.Pro318=) (rs45603139)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038774 SCV000062452 benign not specified 2012-04-18 criteria provided, single submitter clinical testing Pro318Pro in Exon 10 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.5% (17/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (; dbSNP rs45603139).
Ambry Genetics RCV000619611 SCV000736935 likely benign Cardiovascular phenotype 2017-08-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038774 SCV001519607 benign not specified 2021-03-11 criteria provided, single submitter clinical testing
Invitae RCV001515440 SCV001723519 benign Myofibrillar myopathy, ZASP-related 2020-11-13 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.