ClinVar Miner

Submissions for variant NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu)

gnomAD frequency: 0.00258  dbSNP: rs142119277
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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 RCV000461251 SCV000554331 benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196973 SCV001367608 benign See cases 2018-11-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen RCV003418209 SCV004141954 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ARHGEF15: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003418209 SCV005253625 benign not provided criteria provided, single submitter not provided

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