ClinVar Miner

Submissions for variant NM_001301130.2(POLR2F):c.453-24294G>C

gnomAD frequency: 0.00095  dbSNP: rs533778281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997923 SCV001153694 benign not provided 2024-01-01 criteria provided, single submitter clinical testing SOX10: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003952695 SCV004769678 likely benign SOX10-related condition 2022-05-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
U955 Equipe 11, INSERM RCV000144843 SCV000108700 likely pathogenic Hirschsprung disease, susceptibility to, 1 2013-12-11 no assertion criteria provided in vitro Regulation of SOX10 expression

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