ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)

gnomAD frequency: 0.00512  dbSNP: rs35578974
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311757 SCV000472169 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313928 SCV000847990 likely benign Inborn genetic diseases 2019-07-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000947138 SCV001093309 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000947138 SCV001782659 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118663 SCV000153077 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252380 SCV001428135 likely pathogenic Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 2019-01-01 no assertion criteria provided clinical testing

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