Submissions for variant NM_001715.3(BLK):c.116C>T (p.Pro39Leu) (rs142352008)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000242255	SCV000308016	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000329303	SCV000471325	benign	Maturity-onset diabetes of the young, type 11	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.
Invitae	RCV000963045	SCV001110171	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Carola Vinuesa Lab,John Curtin School of Medical Research	RCV000758180	SCV000886645	benign	Systemic lupus erythematosus		no assertion criteria provided	research