ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) (rs56376197)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245124 SCV000317919 benign Cardiovascular phenotype 2012-11-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713951 SCV000844600 benign not provided 2015-08-25 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040911 SCV000051646 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769855 SCV000901281 benign Cardiomyopathy 2015-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000040911 SCV000169463 benign not specified 2014-04-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000353675 SCV000420211 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263390 SCV000420212 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318496 SCV000420213 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387147 SCV000420214 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292864 SCV000420215 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334137 SCV000420216 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226899 SCV000286395 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040911 SCV000064602 benign not specified 2012-08-15 criteria provided, single submitter clinical testing 4.9% (180/3700) of Afr Amer chrom in ESP
PreventionGenetics RCV000040911 SCV000315628 benign not specified criteria provided, single submitter clinical testing

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