ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.1644G>T (p.Gln548His)

dbSNP: rs1739405858
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001253649 SCV001429483 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2018-04-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692353 SCV005189432 uncertain significance not provided criteria provided, single submitter not provided

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