ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.7401T>C (p.Ser2467=)

gnomAD frequency: 0.00046  dbSNP: rs377647192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973088 SCV001120824 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000973088 SCV001945708 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973088 SCV002062582 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing TRIO: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002503093 SCV002805688 likely benign Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-10-26 criteria provided, single submitter clinical testing

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