ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1503C>T (p.Ala501=) (rs147692024)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622047 SCV000735611 likely benign Cardiovascular phenotype 2016-01-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038734 SCV000062412 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala501Ala in exon 12 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% (2/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs147692024). Ala501Ala in exo n 12 of LDB3 (rs147692024; allele frequency = 0.1%, 2/3738) **

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