ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)

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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 RCV003148436 SCV003835631 uncertain significance Tibial muscular dystrophy 2022-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148438 SCV003835632 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148437 SCV003835669 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148435 SCV003835683 uncertain significance Dilated cardiomyopathy 1G 2022-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148439 SCV003836222 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-05-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148434 SCV003836223 uncertain significance Hypertrophic cardiomyopathy 9 2022-05-24 criteria provided, single submitter clinical testing

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