ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) (rs77968867)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714120 SCV000844795 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040794 SCV000054892 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768860 SCV000900233 likely benign Cardiomyopathy 2017-08-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040794 SCV000333950 benign not specified 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000040794 SCV000237765 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 RCV000456600 SCV000555483 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 RCV000040794 SCV000064485 likely benign not specified 2012-01-09 criteria provided, single submitter clinical testing Val28278Ala in exon 288 of TTN: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence and ha s been identified in 0.3% (6/2000) of racially unspecified chromosomes (dbSNP rs 77968867) and in 0.8% (27/3168) of African American chromosomes (NHLBI Exome Seq uencing Project; from two broad, though clinic ally unspecified populations. Val28278Ala in exon 288 of TTN (rs7796886, NHLBI Exome Seq Project; 0.8%, 27/3168)

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