ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)

gnomAD frequency: 0.00265  dbSNP: rs72647845
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Total submissions: 16
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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 RCV000040947 SCV000055122 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040947 SCV000064638 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro324Ser in Exon 07 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (41/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs72647845).
GeneDx RCV001703918 SCV000236753 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362, 22863191)
Ambry Genetics RCV000249588 SCV000318581 benign Cardiovascular phenotype 2019-09-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Eurofins Ntd Llc (ga) RCV000040947 SCV000342148 benign not specified 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV000459552 SCV000555655 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040947 SCV000616193 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769142 SCV000900516 likely benign Cardiomyopathy 2017-03-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852946 SCV000995692 benign Cardiomyopathy; Long QT syndrome 2019-06-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040947 SCV001432081 likely benign not specified 2020-08-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839765 SCV002101655 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839766 SCV002101657 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839767 SCV002101658 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839764 SCV002101659 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000040947 SCV001924829 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000040947 SCV001975077 benign not specified no assertion criteria provided clinical testing

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