Submissions for variant NM_020779.4(WDR35):c.770T>C (p.Val257Ala)

gnomAD frequency: 0.00095  dbSNP: rs142955097

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180197	SCV000232590	benign	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406382	SCV000426054	likely benign	Short-rib thoracic dysplasia 7 with or without polydactyly	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000308975	SCV000426055	likely benign	Cranioectodermal dysplasia 2	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000537286	SCV000660381	likely benign	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000180197	SCV001158283	likely benign	not specified	2018-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001556776	SCV001778414	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277428	SCV002567189	benign	Connective tissue disorder	2021-12-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001556776	SCV001977890	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001556776	SCV001979972	likely benign	not provided		no assertion criteria provided	clinical testing