ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.72C>T (p.Ser24=)

gnomAD frequency: 0.00110  dbSNP: rs763019569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000599945 SCV000712276 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Ser24Ser in exon 2 of SOX10: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/454 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs763019569).
Eurofins Ntd Llc (ga) RCV000729027 SCV000856661 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729027 SCV001013411 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000729027 SCV001795093 likely benign not provided 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543402 SCV004764666 likely benign SOX10-related disorder 2023-02-03 no assertion criteria provided 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).

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