ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)

gnomAD frequency: 0.00001  dbSNP: rs765257439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458994 SCV000542374 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489005 SCV002777513 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486844 SCV004239849 benign Cardiomyopathy 2023-06-19 criteria provided, single submitter clinical testing

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