ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9533A>T (p.His3178Leu) (rs1334781459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533200 SCV000643941 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623637 SCV000740878 uncertain significance Inborn genetic diseases 2015-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

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