ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25035C>T (p.Val8345=)

gnomAD frequency: 0.00001  dbSNP: rs781552736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000595423 SCV000706381 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000595423 SCV001051660 likely benign not provided 2018-09-06 criteria provided, single submitter clinical testing
Invitae RCV001477295 SCV001681530 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-08-08 criteria provided, single submitter clinical testing

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