ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)

gnomAD frequency: 0.00030  dbSNP: rs372782502
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724759 SCV000228553 uncertain significance not provided 2015-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000724759 SCV000237478 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087084 SCV001020044 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326970 SCV002629613 likely benign Cardiovascular phenotype 2019-05-10 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.
Revvity Omics, Revvity RCV000724759 SCV004237395 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724759 SCV001744603 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000259188 SCV001918717 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724759 SCV001974534 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724759 SCV001977966 likely benign not provided no assertion criteria provided clinical testing

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