ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)

gnomAD frequency: 0.00003  dbSNP: rs375474669
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000710276 SCV000203714 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000464514 SCV000542678 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710276 SCV000616075 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621883 SCV000737323 likely benign Cardiovascular phenotype 2019-12-11 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000710276 SCV000980541 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001798493 SCV002042470 uncertain significance Cardiomyopathy 2019-07-08 criteria provided, single submitter clinical testing

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