ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del)

dbSNP: rs754236839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456507 SCV000542992 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001577263 SCV001804612 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing In-frame deletion of five amino acids in a non-repeat region; Located in a region of TTN within the I-band (Deo et al., 2016; Schafer et al., 2017); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001577263 SCV002541960 uncertain significance not provided 2021-09-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486848 SCV004239892 uncertain significance Cardiomyopathy 2022-11-17 criteria provided, single submitter clinical testing

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