ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) (rs397517684)

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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 RCV000040554 SCV000064245 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing p.Thr20867Thr in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue. It has been ident ified in 1/66632 European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs397517684).
GeneDx RCV000040554 SCV000531489 likely benign not specified 2016-09-02 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 RCV000714085 SCV000844752 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV001471434 SCV001675538 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-02-05 criteria provided, single submitter clinical testing

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