ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.6955_6975dup (p.Ser2325_Ser2326insGlyHisSerGlyGlyProSer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035370 SCV005668479 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2024-03-28 criteria provided, single submitter clinical testing

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