ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40929T>C (p.Gly13643=)

dbSNP: rs773615100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545564 SCV000643132 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352916 SCV004053218 likely benign Cardiovascular phenotype 2023-06-21 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.

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