ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) (rs67041405)

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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 RCV000241872 SCV000318090 likely benign Cardiovascular phenotype 2012-12-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769960 SCV000901386 benign Cardiomyopathy 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000040544 SCV000169343 benign not specified 2012-10-12 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 RCV000403274 SCV000422035 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314287 SCV000422036 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355110 SCV000422037 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259841 SCV000422038 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300979 SCV000422039 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356339 SCV000422040 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228909 SCV000286802 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040544 SCV000064235 benign not specified 2012-04-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000040544 SCV000315542 benign not specified criteria provided, single submitter clinical testing

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