ClinVar Miner

Submissions for variant NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[1] (p.347SGSS[1])

dbSNP: rs751221446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000439115 SCV000511078 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000439115 SCV001371384 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SOX11: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV000439115 SCV002322613 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521509 SCV003693738 uncertain significance Inborn genetic diseases 2021-02-11 criteria provided, single submitter clinical testing The c.1051_1062del12 (p.S351_S354del) alteration is located in exon 1 (coding exon 1) of the SOX11 gene. This alteration consists of an in-frame deletion of 12 nucleotides between nucleotide positions c.1051 and c.1062, resulting in the deletion of 4 residues. This amino acid region is not well conserved in available vertebrate species. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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