Submissions for variant NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser)

gnomAD frequency: 0.59219  dbSNP: rs2322659

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000349439	SCV000416455	benign	Congenital lactase deficiency	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	RCV000392923	SCV000416456	benign	Lactose intolerance	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001511195	SCV001718398	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001511195	SCV001858127	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000349439	SCV001981326	benign	Congenital lactase deficiency	2021-08-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528850	SCV001741282	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528850	SCV001954036	benign	not specified		no assertion criteria provided	clinical testing