ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)

gnomAD frequency: 0.00026  dbSNP: rs368781863
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Total submissions: 11
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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 RCV000152368 SCV000201294 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro10314Pro in exon 148 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (7/6556) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000152368 SCV000336063 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415765 SCV000493404 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
GeneDx RCV000415765 SCV000515120 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Invitae RCV001085957 SCV000643033 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000415765 SCV001146380 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000415765 SCV001160322 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486681 SCV004239895 likely benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000415765 SCV001739524 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000152368 SCV001919312 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000415765 SCV001966546 likely benign not provided no assertion criteria provided clinical testing

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