ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)

dbSNP: rs201857158
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172168 SCV000051096 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000244016 SCV000318494 uncertain significance Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Phosphorus, Inc. RCV000577929 SCV000679969 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578003 SCV000679970 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578083 SCV000679971 uncertain significance Tibial muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000172168 SCV000714308 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Labcorp Genetics (formerly Invitae), Labcorp RCV001078580 SCV000765049 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000600352 SCV001919594 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000172168 SCV001968298 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535169 SCV004746347 likely benign TTN-related disorder 2020-03-09 no assertion criteria provided 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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