ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.993G>A (p.Ala331=)

gnomAD frequency: 0.00095  dbSNP: rs140347820
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000038775 SCV000062453 likely benign not specified 2015-07-28 criteria provided, single submitter clinical testing p.Ala331Ala in exon 10 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (150/65132) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs140347820).
Invitae RCV001084670 SCV000289631 benign Myofibrillar myopathy 4 2021-12-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038775 SCV000311695 likely benign not specified 2016-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618353 SCV000737003 likely benign Cardiovascular phenotype 2016-10-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000712211 SCV000842649 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769282 SCV000900660 likely benign Cardiomyopathy 2017-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000712211 SCV001473629 likely benign not provided 2019-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000712211 SCV001858161 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000712211 SCV001744661 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038775 SCV001923096 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000712211 SCV001930573 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000712211 SCV001954693 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000712211 SCV001965118 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712211 SCV002037056 likely benign not provided no assertion criteria provided clinical testing

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