ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.204C>T (p.Pro68=)

gnomAD frequency: 0.00012  dbSNP: rs201089861
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244651 SCV000318895 likely benign Cardiovascular phenotype 2013-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory,University of Chicago RCV000500853 SCV000597679 uncertain significance not specified 2016-09-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000500853 SCV000712584 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing p.Pro68Pro in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 6/66698 of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201089861).
Eurofins NTD LLC (GA) RCV000732241 SCV000860165 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001080260 SCV001009105 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000732241 SCV001866397 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing

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