ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)

gnomAD frequency: 0.00003  dbSNP: rs1060500516
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474554 SCV000542845 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769902 SCV000901328 likely benign Cardiomyopathy 2023-03-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000997518 SCV001744558 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000997518 SCV001920508 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000997518 SCV001930993 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000997518 SCV001966793 uncertain significance not provided no assertion criteria provided clinical testing

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