ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71909G>A (p.Arg23970Gln)

gnomAD frequency: 0.00001  dbSNP: rs727503563
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Total submissions: 3
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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 RCV000152221 SCV000201007 uncertain significance not specified 2014-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001753542 SCV001986871 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798478 SCV002042634 uncertain significance Cardiomyopathy 2020-08-24 criteria provided, single submitter clinical testing

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