ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr)

gnomAD frequency: 0.00016  dbSNP: rs200539540
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
New York Genome Center RCV004799296 SCV001431101 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001552103 SCV001772739 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001552103 SCV003821467 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing

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