ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) (rs148210834)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000040558 SCV000728194 likely benign not specified 2018-02-28 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.
Invitae RCV000543667 SCV000643607 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040558 SCV000064249 likely benign not specified 2012-03-21 criteria provided, single submitter clinical testing Thr20980Thr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. Thr20980Thr in exon 275 of TTN (allele frequency = n/a)

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