ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38753T>C (p.Leu12918Ser)

gnomAD frequency: 0.06111  dbSNP: rs2562847
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083056 SCV000764667 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000642980 SCV001146392 benign not provided 2018-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000642980 SCV001940938 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840722 SCV002101272 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840723 SCV002101273 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840724 SCV002101274 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840721 SCV002101275 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001725193 SCV001959749 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725193 SCV001968453 benign not specified no assertion criteria provided clinical testing

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