ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)

gnomAD frequency: 0.00002  dbSNP: rs375627540
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213881 SCV000238304 benign not specified 2016-08-24 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213881 SCV000270987 likely benign not specified 2015-04-29 criteria provided, single submitter clinical testing p.Gly6023Asp in exon 72 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (97/16584) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs375627540).
Invitae RCV001079554 SCV000286502 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000213881 SCV000335016 likely benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400590 SCV000424322 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312467 SCV000424323 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351045 SCV000424324 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391021 SCV000424325 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297374 SCV000424326 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354605 SCV000424327 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713987 SCV000844643 likely benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000213881 SCV002104043 likely benign not specified 2022-02-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150081 SCV003838037 benign Cardiomyopathy 2021-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713987 SCV004155274 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TTN: BP4, BS2
Clinical Genetics, Academic Medical Center RCV000213881 SCV001922497 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000713987 SCV001972095 likely benign not provided no assertion criteria provided clinical testing

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