ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)

dbSNP: rs572401798
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152175 SCV000200905 likely benign not specified 2013-12-26 criteria provided, single submitter clinical testing Ile29492Ile in exon 295 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ile29492Ile in exon 295 of TTN (allele freq uency = n/a)
GeneDx RCV000152175 SCV000515182 benign not specified 2015-05-11 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.
Invitae RCV000472683 SCV000555531 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152175 SCV000616189 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170755 SCV001333360 benign Cardiomyopathy 2018-02-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840072 SCV002102094 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840073 SCV002102096 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840074 SCV002102097 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840071 SCV002102098 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362794 SCV002662950 likely benign Cardiovascular phenotype 2019-06-14 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.
Clinical Genetics, Academic Medical Center RCV000152175 SCV001925817 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726003 SCV001963243 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152175 SCV001978237 benign not specified no assertion criteria provided clinical testing

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