ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)

gnomAD frequency: 0.00011  dbSNP: rs377334665
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731480 SCV000237524 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23396983, 31983221)
Labcorp Genetics (formerly Invitae), Labcorp RCV000228035 SCV000286825 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-12-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731480 SCV000859304 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769949 SCV000901375 uncertain significance Cardiomyopathy 2017-02-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000184806 SCV000966549 likely benign not specified 2018-08-29 criteria provided, single submitter clinical testing The p.Thr21877Ile variant in TTN is classified as likely benign because it has b een identified in 0.02% (25/125770) of European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 202848). ACMG/AMP Criteria applied: BS1, PP3.
Athena Diagnostics RCV000731480 SCV001146480 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000731480 SCV002541931 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000731480 SCV003825577 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing

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