ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86934C>T (p.Val28978=) (rs531340219)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217527 SCV000271097 likely benign not specified 2015-04-15 criteria provided, single submitter clinical testing p.Val26410Val in exon 276 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/66534 European chromosomes and 2/8482 East Asian chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org).
Ambry Genetics RCV000618666 SCV000736076 likely benign Cardiovascular phenotype 2017-10-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000864019 SCV001004760 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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