ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)

gnomAD frequency: 0.00827  dbSNP: rs34179337
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118667 SCV000153081 benign not specified 2013-06-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118667 SCV000314796 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261001 SCV000472197 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313929 SCV000847434 likely benign Inborn genetic diseases 2016-07-29 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 RCV000956678 SCV001103454 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000956678 SCV001767489 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing

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