ClinVar Miner

Submissions for variant NM_001349999.2(RBFOX2):c.234C>G (p.Ser78Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052235 SCV005685308 uncertain significance Congenital heart disease 2024-07-19 criteria provided, single submitter clinical testing The RBFOX2 c.234C>G (p.Ser78Arg) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.0065% in the European non-Finnish population. Computational predictors suggest that the variant does not impact RBFOX2 function. Due to limited information, the clinical significance of this variant is uncertain.

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