ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) (rs753546095)

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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 RCV000214186 SCV000270990 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing p.Ser6482Ser in exon 77 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/65342 European chromosomes and 1/16246 South Asian chromosomes by the Exome Aggregation Consort ium (ExAC,
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725530 SCV000337552 uncertain significance not provided 2015-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000214186 SCV000532657 likely benign not specified 2016-10-12 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.

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