Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905107 | SCV001049672 | likely benign | not provided | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001027849 | SCV001190473 | uncertain significance | Agammaglobulinemia 8, autosomal dominant | 2019-11-19 | criteria provided, single submitter | clinical testing | TCF3 NM_003200.3 exon 6 p.Gly103Ser (c.307G>A): This variant has not been reported in the literature but is present in 0.2% (59/19784) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-1627417-C-T?dataset=gnomad_r2_1). This variant amino acid Serine (Ser) is present in >20 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Center for Genomics, |
RCV003224490 | SCV003920540 | uncertain significance | Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive | 2021-03-30 | criteria provided, single submitter | clinical testing | TCF3 NM_003200.3 exon 6 p.Gly103Ser (c.307G>A): This variant has not been reported in the literature but is present in 0.2% (59/19784) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-1627417-C-T?dataset=gnomad_r2_1). This variant amino acid Serine (Ser) is present in >20 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |