ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.8237T>C (p.Ile2746Thr)

dbSNP: rs1757054340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334643 SCV001527547 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2018-03-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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