ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) (rs55806007)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245989 SCV000317464 likely benign Cardiovascular phenotype 2012-07-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768821 SCV000900194 benign Cardiomyopathy 2016-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000040960 SCV000169477 benign not specified 2012-12-21 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 RCV000287653 SCV000419989 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344968 SCV000419990 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403890 SCV000419991 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291335 SCV000419992 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348634 SCV000419993 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397031 SCV000419994 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206429 SCV000262202 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040960 SCV000064651 benign not specified 2012-04-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000040960 SCV000315652 likely benign not specified criteria provided, single submitter clinical testing

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