ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)

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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 RCV003148157 SCV003834799 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148154 SCV003834810 uncertain significance Dilated cardiomyopathy 1G 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148156 SCV003834821 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148155 SCV003835142 uncertain significance Tibial muscular dystrophy 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148153 SCV003835992 uncertain significance Hypertrophic cardiomyopathy 9 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148158 SCV003836290 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2021-02-05 criteria provided, single submitter clinical testing

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