ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96315T>G (p.Thr32105=)

gnomAD frequency: 0.00001  dbSNP: rs727503540
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Total submissions: 3
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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 RCV000152174 SCV000200903 likely benign not specified 2014-03-18 criteria provided, single submitter clinical testing Thr29537Thr in exon 296 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Invitae RCV001445262 SCV001648288 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-08-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436959 SCV004150215 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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