ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) (rs112812685)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125589 SCV000169046 benign not specified 2013-06-26 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 RCV001083686 SCV000284804 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625039 SCV000743597 benign Ceroid lipofuscinosis neuronal 2 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625039 SCV000744907 benign Ceroid lipofuscinosis neuronal 2 2015-11-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713859 SCV000844497 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715950 SCV000846782 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing Does not segregate in family study ;Other data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000625039 SCV001259519 likely benign Ceroid lipofuscinosis neuronal 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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