ClinVar Miner

Submissions for variant NM_001080116.1(LDB3):c.780C>T (p.Asn260=) (rs372789789)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621208 SCV000736046 likely benign Cardiovascular phenotype 2017-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000154747 SCV000170112 benign not specified 2014-03-19 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 RCV000476412 SCV000557558 benign Myofibrillar myopathy, ZASP-related 2017-11-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154747 SCV000204427 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn260Asn in exon 9 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.1% (5/6690) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Asn260Asn in exon 9 of LDB3 (allele frequency = 0.1%, 5/6690) **

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