ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=)

gnomAD frequency: 0.01086  dbSNP: rs28710457
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375192 SCV000472179 likely benign Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311433 SCV000846419 likely benign Inborn genetic diseases 2016-05-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000968134 SCV001115568 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000968134 SCV001855494 benign not provided 2020-02-05 criteria provided, single submitter clinical testing

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