ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)

gnomAD frequency: 0.00003  dbSNP: rs766440492
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337417 SCV000338500 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769837 SCV000901263 uncertain significance Cardiomyopathy 2017-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411146 SCV002675961 likely benign Cardiovascular phenotype 2020-05-14 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.
Fulgent Genetics, Fulgent Genetics RCV002487185 SCV002786873 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000337417 SCV003819622 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000337417 SCV001978973 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000337417 SCV001979501 uncertain significance not provided no assertion criteria provided clinical testing

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