ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser)

gnomAD frequency: 0.20680  dbSNP: rs2627037
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Total submissions: 11
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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 RCV000041076 SCV000051631 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041076 SCV000064767 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000041076 SCV000169570 benign not specified 2012-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000041076 SCV000307150 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000619046 SCV000734951 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics Inc RCV000993383 SCV001146314 benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Invitae RCV001521506 SCV001730863 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839777 SCV002100880 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839778 SCV002100881 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839779 SCV002100882 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839776 SCV002100883 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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