ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)

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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 RCV003148108 SCV003834885 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148106 SCV003835028 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148105 SCV003835191 uncertain significance Tibial muscular dystrophy 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148107 SCV003835855 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148104 SCV003835982 uncertain significance Dilated cardiomyopathy 1G 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148103 SCV003836311 uncertain significance Hypertrophic cardiomyopathy 9 2021-02-05 criteria provided, single submitter clinical testing

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