ClinVar Miner

Submissions for variant NM_001367823.1(ARHGEF18):c.968-273C>G

gnomAD frequency: 0.00273  dbSNP: rs531485198
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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 RCV000893725 SCV001037680 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893725 SCV004146444 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ARHGEF18: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000893725 SCV005210517 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910641 SCV004720615 benign ARHGEF18-related disorder 2024-04-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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