ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.993G>A (p.Ala331=) (rs140347820)

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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 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 RCV000712211 SCV000289631 benign not provided 2016-03-09 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 Lines of evidence used in support of classification: 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

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