ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr)

dbSNP: rs1594384127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204274 SCV002493019 likely benign Rett syndrome, congenital variant 2022-06-13 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002204274 SCV003919986 uncertain significance Rett syndrome, congenital variant 2022-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.04% (1/2090) https://gnomad.broadinstitute.org/variant/14-28768402-G-A?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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