ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.100C>T (p.Gln34Ter)

dbSNP: rs1714841256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195766 SCV001366186 uncertain significance Anophthalmia/microphthalmia-esophageal atresia syndrome 2018-12-03 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.
GenomeConnect, ClinGen RCV001249255 SCV001423196 not provided SOX2-related disorder no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 09-26-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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