ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)

gnomAD frequency: 0.00010  dbSNP: rs148920986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177666 SCV000229568 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770122 SCV000901548 uncertain significance Cardiomyopathy 2016-03-09 criteria provided, single submitter clinical testing
James R Lupski Laboratory, Baylor College Of Medicine RCV004577945 SCV000930019 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2019-07-01 criteria provided, single submitter research
GeneDx RCV000177666 SCV002504525 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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