ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)

gnomAD frequency: 0.00011  dbSNP: rs201693851
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726175 SCV000237388 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666)
Labcorp Genetics (formerly Invitae), Labcorp RCV000559556 SCV000643485 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726175 SCV000701283 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798652 SCV002042582 likely benign Cardiomyopathy 2023-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453680 SCV002615002 likely benign Cardiovascular phenotype 2020-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV000726175 SCV001920932 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726175 SCV001957050 uncertain significance not provided no assertion criteria provided clinical testing

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