ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1956C>T (p.Asp652=) (rs139213290)

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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 RCV000150931 SCV000198580 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp652Asp in exon 14 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% (4/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs139213290). Asp652Asp in ex on 14 of LDB3 (rs139213290; allele frequency = 0.1%, 4/7020) **
GeneDx RCV000150931 SCV000513476 benign not specified 2015-05-27 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 RCV000458699 SCV000557564 likely benign Myofibrillar myopathy, ZASP-related 2020-11-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170184 SCV001332734 benign Cardiomyopathy 2018-09-19 criteria provided, single submitter clinical testing

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