ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)

gnomAD frequency: 0.00001  dbSNP: rs935809232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698180 SCV000530970 likely benign not provided 2018-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643856 SCV000765543 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402185 SCV002673162 likely benign Cardiovascular phenotype 2021-11-08 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.
Revvity Omics, Revvity RCV001698180 SCV003819762 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing

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