Submissions for variant NM_002272.4(KRT4):c.*269A>G

gnomAD frequency: 0.82793  dbSNP: rs2035879

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000403836	SCV000380099	benign	White sponge nevus 1	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	RCV000056920	SCV001866329	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000056920	SCV005230151	benign	not provided		criteria provided, single submitter	not provided
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000056920	SCV000088033	not provided	not provided		no assertion provided	not provided