ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.456G>A (p.Ala152=)

gnomAD frequency: 0.00002  dbSNP: rs371708921
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155799 SCV000205510 likely benign not specified 2015-02-02 criteria provided, single submitter clinical testing p.Ala152Ala in exon 6 of LDB3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (49/16512) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org).
Illumina Laboratory Services, Illumina RCV000270042 SCV000365564 uncertain significance Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332141 SCV000365565 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389071 SCV000365566 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292985 SCV000365567 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000270042 SCV001014910 benign Myofibrillar myopathy 4 2023-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945239 SCV004769712 likely benign LDB3-related disorder 2019-10-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293330 SCV001481917 uncertain significance Dilated cardiomyopathy 1C 2015-02-04 no assertion criteria provided case-control

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