ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.3279+4C>T (rs79877357)

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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 RCV000400581 SCV000472165 likely benign Mental retardation, autosomal recessive 13 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000715640 SCV000846470 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing Other data supporting benign classification
Genetic Services Laboratory, University of Chicago RCV000118679 SCV000153093 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.

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