ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52947C>G (p.Ala17649=)

dbSNP: rs766991039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077872 SCV002322069 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427533 SCV002743093 likely benign Cardiovascular phenotype 2022-02-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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