Submissions for variant NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)

gnomAD frequency: 0.02573  dbSNP: rs2234675

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000203286	SCV000258326	uncertain significance	Congenital diaphragmatic hernia	2015-03-03	criteria provided, single submitter	research	It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213796	SCV000269613	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Thr314Lys in exon 6 of PAX3: This variant is not expected to have clinical signi ficance because it has been identified in 3.8% (326/8600) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs2234675).
PreventionGenetics, part of Exact Sciences	RCV000213796	SCV000316723	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293967	SCV000427898	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	RCV000348942	SCV000427899	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.
Laboratory of Human Genetics, Universidade de São Paulo	RCV000626405	SCV000678740	likely benign	Waardenburg syndrome type 1	2017-03-01	criteria provided, single submitter	research
GeneDx	RCV000213796	SCV000717806	benign	not specified	2017-09-08	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.
Athena Diagnostics Inc	RCV000992502	SCV001144868	benign	not provided	2018-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV000992502	SCV002395115	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing