ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) (rs144963736)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713952 SCV000844601 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040914 SCV000054868 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769853 SCV000901279 likely benign Cardiomyopathy 2017-08-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040914 SCV000333945 benign not specified 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000040914 SCV000237898 likely benign not specified 2018-01-10 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 RCV000475747 SCV000555142 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040914 SCV000064605 likely benign not specified 2012-01-10 criteria provided, single submitter clinical testing Asp31467Asn in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (27/3158) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs144963736). Asp31467Asn in exon 307 of TTN (rs144963736, allele frequency = 0.8%, 27/3158) **
PreventionGenetics RCV000040914 SCV000315630 likely benign not specified criteria provided, single submitter clinical testing

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