ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=)

gnomAD frequency: 0.00004  dbSNP: rs886062722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318247 SCV000472178 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003766084 SCV004639694 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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