Submissions for variant NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val)

dbSNP: rs75230537

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147913	SCV000195404	benign	not specified	2013-07-16	criteria provided, single submitter	clinical testing
Invitae	RCV000959547	SCV001106460	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001126009	SCV001285153	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	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.
GeneDx	RCV000959547	SCV001756155	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001126009	SCV002514904	benign	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	2021-12-05	criteria provided, single submitter	clinical testing