ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31227T>G (p.Val10409=)

gnomAD frequency: 0.00005  dbSNP: rs748539440
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469228 SCV000555513 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001672779 SCV001883198 benign not provided 2015-09-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840603 SCV002101828 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840604 SCV002101829 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840605 SCV002101830 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840602 SCV002101832 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672779 SCV004011274 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001796065 SCV002034699 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001672779 SCV002037251 likely benign not provided no assertion criteria provided clinical testing

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