ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.7457_7468del (p.Trp2486_Pro2490delinsSer)

gnomAD frequency: 0.00802  dbSNP: rs140308852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972413 SCV001120123 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000972413 SCV001887902 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503088 SCV002800382 likely benign Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-08-04 criteria provided, single submitter clinical testing

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