ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)

gnomAD frequency: 0.00004  dbSNP: rs370216450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732419 SCV000860378 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV002067129 SCV002332901 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397511 SCV002707231 likely benign Cardiovascular phenotype 2021-01-01 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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