ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) (rs146057575)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000488131 SCV000616039 likely benign not provided 2018-03-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488131 SCV000575287 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040055 SCV000336986 likely benign not specified 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000040055 SCV000238379 likely benign not specified 2016-06-07 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 RCV000333598 SCV000423980 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381135 SCV000423981 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289133 SCV000423982 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327811 SCV000423983 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376632 SCV000423984 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284411 SCV000423985 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548501 SCV000642889 uncertain significance 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 RCV000040055 SCV000063746 benign not specified 2013-04-17 criteria provided, single submitter clinical testing Asn7647Ser in exon 89 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 3.1% (6/192) of Luhya chromosomes by the 1000 Genomes Project (dbSNP rs146057575). In addition, multiple mammals (inc luding bushbaby, rat, hedgehog, and elephant) carry a serine (Ser) at this posit ion.

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