ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26200+19A>T

gnomAD frequency: 0.04396  dbSNP: rs2562837
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180437 SCV000169653 benign not specified 2013-04-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000180437 SCV000232872 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180437 SCV000315442 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000180437 SCV001362715 benign not specified 2019-09-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840041 SCV002101988 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840042 SCV002101989 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840043 SCV002101990 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840040 SCV002101991 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV002055626 SCV002410163 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000180437 SCV001919986 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000180437 SCV001972314 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000180437 SCV002036200 benign not specified no assertion criteria provided clinical testing

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