ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66624A>G (p.Leu22208=)

dbSNP: rs2047769242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002089038 SCV002431007 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500130 SCV002806033 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 2021-09-28 criteria provided, single submitter clinical testing

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