ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)

gnomAD frequency: 0.00016  dbSNP: rs56110425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558962 SCV000639917 likely benign Developmental and epileptic encephalopathy, 8 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000558962 SCV002805900 likely benign Developmental and epileptic encephalopathy, 8 2021-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437256 SCV004165186 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ARHGEF9: BS2
PreventionGenetics, part of Exact Sciences RCV003960315 SCV004773929 likely benign ARHGEF9-related condition 2023-05-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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