ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.298del (p.Arg100fs)

dbSNP: rs1735893497
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Total submissions: 1
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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 RCV001262381 SCV001440225 pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2019-01-01 criteria provided, single submitter clinical testing

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