ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.321+10C>A

gnomAD frequency: 0.00029  dbSNP: rs140960868
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Total submissions: 4
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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 RCV000223370 SCV000269610 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 321+10C>A in intron 2 of PAX3: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 1.7% (10/572) of East Asian chromosomes from a bro ad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/ SNP; dbSNP rs140960868).
Illumina Laboratory Services, Illumina RCV000403995 SCV000427906 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 RCV000301761 SCV000427907 benign Craniofacial-deafness-hand 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.
Invitae RCV000894813 SCV001038821 benign not provided 2023-12-02 criteria provided, single submitter clinical testing

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