ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20808G>A (p.Arg6936=)

gnomAD frequency: 0.00001  dbSNP: rs773342572
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552532 SCV000642789 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000614846 SCV000718827 likely benign not specified 2017-04-21 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170087 SCV001332626 benign Cardiomyopathy 2018-03-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840648 SCV002099904 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840649 SCV002099905 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840650 SCV002099906 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840647 SCV002099907 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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