ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26019C>T (p.His8673=)

gnomAD frequency: 0.00031  dbSNP: rs370266918
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126158 SCV000169651 benign not specified 2013-12-16 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.
Ambry Genetics RCV000254515 SCV000318502 likely benign Cardiovascular phenotype 2013-03-05 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.
Invitae RCV001084296 SCV000642882 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727398 SCV000708220 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000126158 SCV001880235 benign not specified 2021-04-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727398 SCV002496606 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing

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