ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)

gnomAD frequency: 0.00006  dbSNP: rs752226947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721180 SCV000238246 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing
Invitae RCV000468744 SCV000542856 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001721180 SCV003827395 uncertain significance not provided 2021-09-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721180 SCV004148125 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing

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