ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.1955T>C (p.Leu652Pro)

dbSNP: rs1741443770
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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 RCV001332886 SCV001525328 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2020-12-05 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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