ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.289G>A (p.Val97Met) (rs185921345)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155019 SCV000204702 likely benign not specified 2014-04-10 criteria provided, single submitter clinical testing Val97Met in exon 3 of TTN: This variant is not expected to have clinical signifi cance because it has been identified in 2.2% (4/186) of Finnish chromosomes by t he 1000 Genomes Project (dbSNP rs185921345).
GeneDx RCV000155019 SCV000238105 benign not specified 2017-10-31 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.
Athena Diagnostics Inc RCV000155019 SCV000616047 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000529339 SCV000642939 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-07 criteria provided, single submitter clinical testing

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