ClinVar Miner

Submissions for variant NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)

dbSNP: rs2083259164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801307 SCV002047516 uncertain significance Autism; Cerebellar ataxia; Global developmental delay; Seizure; Hypotonia 2021-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333180 SCV004041061 likely pathogenic Developmental and epileptic encephalopathy 109 2023-06-20 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001849575 SCV002106397 likely pathogenic Global developmental delay no assertion criteria provided clinical testing

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