ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile)

gnomAD frequency: 0.00004  dbSNP: rs367685188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643795 SCV000765482 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-17 criteria provided, single submitter clinical testing

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