ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)

gnomAD frequency: 0.00103  dbSNP: rs187182557
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Total submissions: 12
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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 RCV000039974 SCV000063665 benign not specified 2015-04-28 criteria provided, single submitter clinical testing p.Thr6320Thr in exon 75 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (38/9800) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs187182557).
GeneDx RCV001719764 SCV000238322 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Invitae RCV000476003 SCV000555334 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000039974 SCV000616025 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039974 SCV000700706 likely benign not specified 2017-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001719764 SCV001473649 benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839540 SCV002099851 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839541 SCV002099852 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839542 SCV002099853 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839539 SCV002099854 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039974 SCV002555947 likely benign not specified 2022-06-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486575 SCV004239855 benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing

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