ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2356C>T (p.Arg786Ter)

gnomAD frequency: 0.00001  dbSNP: rs772174079
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194400 SCV000249319 pathogenic Microcephaly and chorioretinopathy with or without intellectual disability 2015-05-29 criteria provided, single submitter clinical testing

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