ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.2046+6G>T

dbSNP: rs1741451308
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266876 SCV002549012 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-05-27 criteria provided, single submitter clinical testing

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