Submissions for variant NM_002282.3(KRT83):c.558C>T (p.Asn186=)

gnomAD frequency: 0.32296  dbSNP: rs3741715

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000268180	SCV000379922	benign	Beaded hair	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000056955	SCV001910136	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Invitae	RCV000056955	SCV002410340	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000056955	SCV000088068	not provided	not provided		no assertion provided	not provided