ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) (rs141482368)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000259663 SCV000373324 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000423799 SCV000514961 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000632726 SCV000753912 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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