ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=)

gnomAD frequency: 0.00002  dbSNP: rs781904925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427319 SCV001629994 likely benign Developmental and epileptic encephalopathy, 8 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438791 SCV004165184 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ARHGEF9: BP4, BP7

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