ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) (rs746222222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216643 SCV000271088 likely benign not specified 2015-06-24 criteria provided, single submitter clinical testing p.Val24716Ile in exon 275 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 3 mammals (Pacific walrus, Weddell seal, Cape golden mole) have a isoleuc ine at this position despite high nearby amino acid conservation. It has been id entified in 1/66714 European chromosomes by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727540 SCV000709588 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing

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