ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33742+8C>T

gnomAD frequency: 0.00008  dbSNP: rs375939001
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427873 SCV000515118 likely benign not specified 2017-08-18 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.
Invitae RCV000866109 SCV001007159 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000427873 SCV001477125 benign not specified 2020-03-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840509 SCV002101427 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840510 SCV002101428 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840511 SCV002101429 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840508 SCV002101430 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000427873 SCV001919645 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726163 SCV001963200 likely benign not provided no assertion criteria provided clinical testing

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