ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.249C>T (p.Tyr83=)

gnomAD frequency: 0.03745  dbSNP: rs73415876
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Total submissions: 8
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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 RCV000220081 SCV000269841 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Tyr83Tyr 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 11.3% (496/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73415876).
PreventionGenetics, part of Exact Sciences RCV000220081 SCV000311651 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312275 SCV000438624 likely benign PCWH syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000369250 SCV000438625 likely benign Waardenburg syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000431231 SCV000511034 benign not provided 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000220081 SCV000718795 benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000431231 SCV001724017 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000431231 SCV005206450 likely benign not provided criteria provided, single submitter not provided

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