ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) (rs138951890)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171997 SCV000051399 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038736 SCV000062414 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing p.Gln512Pro in exon 12 of LDB3: This variant is not expected to have clinical si gnificance because it has been identified in 0.29% of Finnish chromosomes by the Genome Aggregation Database (gnomAD;; dbSNP rs 138951890). Computational tools predict that this variant impacts protein functi on but this evidence is insufficient to override the high minor allele frequency . ACMG/AMP Criteria applied: BS1, PP3
GeneDx RCV000038736 SCV000236004 likely benign not specified 2018-01-24 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 RCV000494180 SCV000581399 likely benign Myofibrillar myopathy, ZASP-related 2017-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171997 SCV000700770 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619692 SCV000737327 uncertain significance Cardiovascular phenotype 2017-11-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623075 SCV000740593 uncertain significance Familial dilated cardiomyopathy 2016-08-29 criteria provided, single submitter clinical testing

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