ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)

gnomAD frequency: 0.00001  dbSNP: rs371563258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088670 SCV000286829 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246952 SCV000319986 likely benign Cardiovascular phenotype 2015-09-04 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.
Eurofins Ntd Llc (ga) RCV000725711 SCV000701092 uncertain significance not provided 2016-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000725711 SCV000714717 likely benign not provided 2021-07-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769942 SCV000901368 likely benign Cardiomyopathy 2016-07-11 criteria provided, single submitter clinical testing

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