ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.*532G>A

dbSNP: rs187594197
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367806 SCV000472153 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512095 SCV002821910 benign not provided 2023-07-01 criteria provided, single submitter clinical testing TRAPPC9: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002512095 SCV005196132 uncertain significance not provided criteria provided, single submitter not provided

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