Submissions for variant NM_006941.4(SOX10):c.822C>T (p.Gly274=)

gnomAD frequency: 0.00153  dbSNP: rs147334218

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220513	SCV000270863	likely benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing	p.Gly274Gly in exon 4 of SOX10: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.17% (211/124588) of European chromosomes and 0.21% (73/34420) of Latino chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs147334 218). ACMG/AMP Criteria applied: BP4, BP7, BS1_P (Richards 2015).
Eurofins Ntd Llc (ga)	RCV000220513	SCV000707702	likely benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV000871208	SCV001012819	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144415	SCV001305011	benign	Waardenburg syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001144416	SCV001305012	benign	PCWH syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000871208	SCV001948697	benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20444197, 20130826, 11499640)
CeGaT Center for Human Genetics Tuebingen	RCV000871208	SCV003916375	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SOX10: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003947713	SCV004761857	likely benign	SOX10-related condition	2020-01-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000871208	SCV001920312	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000871208	SCV001968797	likely benign	not provided		no assertion criteria provided	clinical testing