ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) (rs13021201)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244431 SCV000317999 benign Cardiovascular phenotype 2012-08-07 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040488 SCV000051714 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000040488 SCV000169324 benign not specified 2012-10-18 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 RCV000040488 SCV000153326 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000308979 SCV000422305 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365873 SCV000422306 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402502 SCV000422307 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307887 SCV000422308 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360249 SCV000422309 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268004 SCV000422310 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465778 SCV000555112 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040488 SCV000064179 benign not specified 2011-12-23 criteria provided, single submitter clinical testing Ser19148Leu in exon 260 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 4.2% (280/6692) of Caucasian chromo somes from a broad clinical cohort (rs13021201). Ser19148Leu in exon 260 of TTN (rs13021201; allele frequency = 4.2%, 280/6692)
PreventionGenetics RCV000040488 SCV000315527 benign not specified criteria provided, single submitter clinical testing

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