ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) (rs4145333)

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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 RCV000248869 SCV000317585 benign Cardiovascular phenotype 2012-08-09 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040520 SCV000051706 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768949 SCV000900322 benign Cardiomyopathy 2015-09-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040520 SCV000228415 benign not specified 2014-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000040520 SCV000169335 benign not specified 2013-01-31 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.
Genetic Services Laboratory, University of Chicago RCV000040520 SCV000153330 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317492 SCV000422131 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374422 SCV000422132 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282280 SCV000422133 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339521 SCV000422134 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407028 SCV000422135 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286185 SCV000422136 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040520 SCV000064211 benign not specified 2011-09-16 criteria provided, single submitter clinical testing Ala19848Pro in Exon 267 of TTN: This variant is not expected to have clinical si gnificance because it has been reported in dbSNP with a MAF >3% (rs4145333).
PreventionGenetics RCV000040520 SCV000315534 benign not specified criteria provided, single submitter clinical testing

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