ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6864C>T (p.Cys2288=)

gnomAD frequency: 0.00001  dbSNP: rs543264216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428645 SCV001631347 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150428 SCV003838672 likely benign Cardiomyopathy 2021-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995801 SCV005521738 likely benign Cardiovascular phenotype 2024-06-28 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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