ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67637-9A>G

gnomAD frequency: 0.00001  dbSNP: rs2047164551
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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 RCV002195753 SCV002483995 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481021 SCV002799299 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 2022-02-16 criteria provided, single submitter clinical testing

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