ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4716G>A (rs371708921)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 Clinical Services Laboratory,Illumina RCV000270042 SCV000365564 uncertain significance Myofibrillar myopathy, ZASP-related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332141 SCV000365565 uncertain significance Cardiomyopathy, left ventricular noncompaction 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389071 SCV000365566 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292985 SCV000365567 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000270042 SCV001014910 benign Myofibrillar myopathy, ZASP-related 2020-11-14 criteria provided, single submitter clinical testing
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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