ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)

gnomAD frequency: 0.00019  dbSNP: rs142907833
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118792 SCV000153404 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088475 SCV001003792 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000863179 SCV001146550 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000863179 SCV001777332 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000863179 SCV002047740 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839913 SCV002101757 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839914 SCV002101758 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839915 SCV002101759 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839912 SCV002101760 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362749 SCV002666614 benign Cardiovascular phenotype 2020-01-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV004542864 SCV004784158 likely benign TTN-related disorder 2019-08-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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