ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys)

gnomAD frequency: 0.00001  dbSNP: rs773394284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549952 SCV000643301 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV002225654 SCV002504310 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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