ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)

dbSNP: rs547682223
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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, Mass General Brigham Personalized Medicine RCV000156500 SCV000206219 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing Thr13713Thr in exon 210 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
GeneDx RCV000156500 SCV000732684 likely benign not specified 2017-06-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000643481 SCV000765168 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430715 SCV004152407 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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