ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu)

gnomAD frequency: 0.00197  dbSNP: rs370765948
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172675 SCV000051240 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001082974 SCV000286615 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172675 SCV001152949 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TTN: BP4, BS2
Genome-Nilou Lab RCV001840219 SCV002101316 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840220 SCV002101317 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840221 SCV002101318 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840218 SCV002101319 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172675 SCV001741027 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172675 SCV001798376 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000172675 SCV001931728 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000172675 SCV001968764 likely benign not provided no assertion criteria provided clinical testing

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