ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)

gnomAD frequency: 0.00011  dbSNP: rs536824562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465899 SCV000555029 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810960 SCV001477617 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323765 SCV002632383 likely benign Cardiovascular phenotype 2019-10-11 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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