ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)

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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 RCV003148014 SCV003835534 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-11-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148009 SCV003835937 uncertain significance Hypertrophic cardiomyopathy 9 2022-11-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148013 SCV003835974 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-11-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148010 SCV003835975 uncertain significance Dilated cardiomyopathy 1G 2022-11-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148012 SCV003835993 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003148011 SCV003836045 uncertain significance Tibial muscular dystrophy 2022-11-09 criteria provided, single submitter clinical testing

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