ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70380G>A (p.Leu23460=)

gnomAD frequency: 0.00006  dbSNP: rs185660043
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698328 SCV000534529 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Invitae RCV000863057 SCV001003651 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840565 SCV002100293 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840566 SCV002100294 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840567 SCV002100295 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840564 SCV002100296 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488968 SCV002802340 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-02 criteria provided, single submitter clinical testing

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