Submissions for variant NM_020779.4(WDR35):c.3121+3G>A

gnomAD frequency: 0.00199  dbSNP: rs200042577

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000331902	SCV000336118	likely benign	not specified	2015-10-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270942	SCV000425977	likely benign	Cranioectodermal dysplasia 2	2018-01-12	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	RCV000323605	SCV000425978	likely benign	Short-rib thoracic dysplasia 7 with or without polydactyly	2018-01-12	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.
GeneDx	RCV001573020	SCV000516919	likely benign	not provided	2021-05-24	criteria provided, single submitter	clinical testing
Invitae	RCV000878289	SCV001021169	likely benign	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573020	SCV004138648	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	WDR35: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573020	SCV001798287	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573020	SCV001974743	likely benign	not provided		no assertion criteria provided	clinical testing