ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.840G>C (p.Leu280=) (rs140349036)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118657 SCV000110549 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118657 SCV000153071 uncertain significance not specified 2014-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000118657 SCV000169044 benign not specified 2013-01-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000343988 SCV000373331 uncertain significance Ceroid lipofuscinosis neuronal 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001082223 SCV000559673 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716298 SCV000847138 likely benign Seizures 2016-07-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000473376 SCV001146223 benign not provided 2018-12-27 criteria provided, single submitter clinical testing

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