ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile) (rs373881831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723599 SCV000114390 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000723599 SCV000237156 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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