ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)

gnomAD frequency: 0.00007  dbSNP: rs370810609
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184113 SCV000236682 benign not specified 2014-11-21 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.
Eurofins Ntd Llc (ga) RCV000727528 SCV000709491 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617482 SCV000737203 likely benign Cardiovascular phenotype 2016-11-29 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.
Invitae RCV001089107 SCV001021887 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727528 SCV001477169 likely benign not provided 2019-11-12 criteria provided, single submitter clinical testing

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