ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)

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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 RCV003148000 SCV003835519 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-10-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147999 SCV003835741 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-10-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147996 SCV003835742 uncertain significance Dilated cardiomyopathy 1G 2022-10-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147998 SCV003835820 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147995 SCV003835821 uncertain significance Hypertrophic cardiomyopathy 9 2022-10-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147997 SCV003835938 uncertain significance Tibial muscular dystrophy 2022-10-16 criteria provided, single submitter clinical testing

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