ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.163G>A (p.Val55Ile)

gnomAD frequency: 0.00292  dbSNP: rs3740343
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038739 SCV000051557 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000038739 SCV000062417 benign not specified 2009-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000344271 SCV000365548 likely benign Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000382414 SCV000365549 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000295142 SCV000365550 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000348704 SCV000365551 likely benign Dilated cardiomyopathy 1C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000344271 SCV000557547 benign Myofibrillar myopathy 4 2021-12-18 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000038739 SCV000708001 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620161 SCV000735212 benign Cardiovascular phenotype 2015-11-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000712210 SCV000842648 benign not provided 2018-04-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770137 SCV000901563 benign Cardiomyopathy 2016-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000712210 SCV001845192 benign not provided 2018-11-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27553890)
Clinical Genetics, Academic Medical Center RCV000038739 SCV001922085 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038739 SCV001931195 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038739 SCV001952650 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038739 SCV001967514 benign not specified no assertion criteria provided clinical testing

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