ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148040 SCV003835706 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148035 SCV003835933 uncertain significance Hypertrophic cardiomyopathy 9 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148039 SCV003835946 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148036 SCV003835947 uncertain significance Dilated cardiomyopathy 1G 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148038 SCV003835948 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148037 SCV003835985 uncertain significance Tibial muscular dystrophy 2022-11-03 criteria provided, single submitter clinical testing

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