ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11415A>G (p.Pro3805=)

dbSNP: rs561157636
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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 RCV000229547 SCV000286433 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621905 SCV000735797 likely benign Cardiovascular phenotype 2017-03-15 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.
GeneDx RCV001778815 SCV002015338 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing

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