ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)

gnomAD frequency: 0.00026  dbSNP: rs372541479
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Total submissions: 8
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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 RCV000172309 SCV000054984 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172309 SCV000237315 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Invitae RCV000461788 SCV000543110 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000172309 SCV000884773 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852840 SCV000995570 likely benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433755 SCV002749475 likely benign Cardiovascular phenotype 2020-05-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000172309 SCV003822264 likely benign not provided 2023-08-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323425 SCV004029866 uncertain significance not specified 2023-07-09 criteria provided, single submitter clinical testing

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