ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78063C>T (p.Pro26021=)

gnomAD frequency: 0.00011  dbSNP: rs72648204
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704499 SCV000532145 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000434608 SCV000616147 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV000643690 SCV000765377 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348223 SCV002646026 likely benign Cardiovascular phenotype 2022-02-16 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.
Fulgent Genetics, Fulgent Genetics RCV002481327 SCV002804293 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-02 criteria provided, single submitter clinical testing

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