ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)

gnomAD frequency: 0.00010  dbSNP: rs727504190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723921 SCV000203700 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000154060 SCV000515160 benign not specified 2016-10-12 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.
Invitae RCV001084773 SCV000643541 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354361 SCV002619884 likely benign Cardiovascular phenotype 2020-06-29 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.
CeGaT Center for Human Genetics Tuebingen RCV000723921 SCV004150316 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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