ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64673-5T>C

gnomAD frequency: 0.00006  dbSNP: rs530496528
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731408 SCV000859220 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399219 SCV001601004 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731408 SCV002544148 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Ambry Genetics RCV003353011 SCV004063439 uncertain significance Cardiovascular phenotype 2023-07-19 criteria provided, single submitter clinical testing The c.37478-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 137 in the TTN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000731408 SCV001740110 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000731408 SCV001931549 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000731408 SCV001957931 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727800 SCV001971038 benign not specified no assertion criteria provided clinical testing

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