ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.732C>T (p.Pro244=) (rs144509718)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038767 SCV000062445 likely benign not specified 2012-04-12 criteria provided, single submitter clinical testing Pro244Pro in Exon 07 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (5/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144509718). Pro244Pro in Exo n 07 of LDB3 (rs144509718; allele frequency = 0.1%, 5/3738) **
GeneDx RCV000038767 SCV000528385 likely benign not specified 2016-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000477176 SCV000557555 benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617861 SCV000735194 likely benign Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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