ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)

gnomAD frequency: 0.00125  dbSNP: rs55868891
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000421684 SCV000150339 likely benign not specified 2018-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001719860 SCV000530893 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV001079282 SCV000762484 likely benign Developmental and epileptic encephalopathy, 8 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433607 SCV002750891 likely benign Inborn genetic diseases 2017-12-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000421684 SCV001929499 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001719860 SCV001973160 likely benign not provided no assertion criteria provided clinical testing

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