ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)

gnomAD frequency: 0.00014  dbSNP: rs184815126
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172325 SCV000051253 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000229401 SCV000286688 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000172325 SCV000981102 likely benign not provided 2020-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172325 SCV001152899 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: PM2
Ambry Genetics RCV002415736 SCV002727721 likely benign Cardiovascular phenotype 2020-09-23 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509279 SCV002819921 uncertain significance not specified 2022-12-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172325 SCV003819769 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172325 SCV001800756 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172325 SCV001962871 uncertain significance not provided no assertion criteria provided clinical testing

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