ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp)

gnomAD frequency: 0.00001  dbSNP: rs1064797276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488373 SCV000575285 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486852 SCV004239883 likely benign Cardiomyopathy 2023-04-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000488373 SCV002034167 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000488373 SCV002037550 uncertain significance not provided no assertion criteria provided clinical testing

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