ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)

gnomAD frequency: 0.00001  dbSNP: rs557737090
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573781 SCV000530682 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
Invitae RCV000950980 SCV001097327 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840553 SCV002102157 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840554 SCV002102158 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840555 SCV002102159 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840552 SCV002102160 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365542 SCV002661740 likely benign Cardiovascular phenotype 2019-10-29 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 RCV002488952 SCV002803201 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 2021-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573781 SCV004150226 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573781 SCV001800137 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000428661 SCV001923059 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573781 SCV001964582 likely benign not provided no assertion criteria provided clinical testing

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