ClinVar Miner

Submissions for variant NM_031466.8(TRAPPC9):c.-135A>G

gnomAD frequency: 0.00037  dbSNP: rs148523016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118659 SCV000153073 benign not specified 2013-06-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278340 SCV000472226 likely benign Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316324 SCV000850641 benign Inborn genetic diseases 2017-04-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000960904 SCV001107933 benign not provided 2024-01-04 criteria provided, single submitter clinical testing

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