ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) (rs727503701)

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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 RCV000152519 SCV000201706 uncertain significance not specified 2013-12-04 criteria provided, single submitter clinical testing The Lys762_Ala763del variant in TTN has not been reported in individuals with ca rdiomyopathy. Data from large population studies is insufficient to assess the f requency of this variant. This variant is a deletion of 2 amino acids at positio n 762 and is not predicted to alter the protein reading-frame. It is unclear if this deletion will impact the protein. At this time, additional information is n eeded to fully assess the clinical significance of the Lys762_Ala763del variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725247 SCV000335260 uncertain significance not provided 2015-09-11 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791209 SCV000930491 uncertain significance TTN-Related Disorders 2019-04-27 criteria provided, single submitter clinical testing

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