ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.887-18A>G (rs935526225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428562 SCV000520944 likely pathogenic not provided 2021-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 10330339, 21990111, 10477428, 25525159, 31283065)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000428562 SCV000863394 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Counsyl RCV000984313 SCV001132496 uncertain significance Ceroid lipofuscinosis neuronal 2 2019-01-23 no assertion criteria provided clinical testing

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