ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)

gnomAD frequency: 0.00089  dbSNP: rs144493712
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176044 SCV000227636 benign not specified 2015-05-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297051 SCV000426015 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 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 RCV000355002 SCV000426016 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000554501 SCV000660371 benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001711973 SCV001156776 benign not provided 2023-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001711973 SCV001944732 benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000554501 SCV002811394 likely benign Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2021-10-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711973 SCV005239461 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004537392 SCV004743757 benign WDR35-related disorder 2019-05-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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