ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10854A>C (p.Gln3618His)

gnomAD frequency: 0.00365  dbSNP: rs79466278
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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 RCV000041117 SCV000064808 benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Gln3447His in exon 44B of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1% (106/9800) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs79466278).
GeneDx RCV000041117 SCV000238081 benign not specified 2015-06-11 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.
Invitae RCV000232467 SCV000286428 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839869 SCV002100902 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839870 SCV002100903 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839871 SCV002100904 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839868 SCV002100905 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326340 SCV004033837 benign not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000041117 SCV001800320 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041117 SCV001921590 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041117 SCV001954331 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041117 SCV001969266 benign not specified no assertion criteria provided clinical testing

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