ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)

gnomAD frequency: 0.00005  dbSNP: rs755839294
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184109 SCV000236662 benign not specified 2014-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000184109 SCV000597651 likely benign not specified 2016-12-23 criteria provided, single submitter clinical testing
Invitae RCV000643577 SCV000765264 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840267 SCV002100478 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840268 SCV002100479 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840269 SCV002100480 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840266 SCV002100481 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433823 SCV002747076 likely benign Cardiovascular phenotype 2022-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV002500555 SCV002806048 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 2021-09-30 criteria provided, single submitter clinical testing

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