ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)

gnomAD frequency: 0.00008  dbSNP: rs771257647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083673 SCV000555636 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725692 SCV000701082 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000596559 SCV000730416 benign not specified 2017-01-31 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 RCV002350004 SCV002641617 benign Cardiovascular phenotype 2019-12-19 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.

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