ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1494C>T (p.Pro498=) (rs117942457)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118651 SCV000169052 benign not specified 2012-11-02 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 RCV000230278 SCV000284805 benign Neuronal ceroid lipofuscinosis 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118651 SCV000303960 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303128 SCV000373319 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716324 SCV000847164 benign Seizures 2016-06-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118651 SCV000153065 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675453 SCV000801136 likely benign not provided 2017-05-10 no assertion criteria provided clinical testing

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