Submissions for variant NM_000306.4(POU1F1):c.666-5G>A

gnomAD frequency: 0.00674  dbSNP: rs76296626

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179288	SCV000231513	benign	not specified	2015-04-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281196	SCV000446375	likely benign	Combined Pituitary Hormone Deficiency, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363552	SCV000484072	benign	Frontotemporal dementia	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712842	SCV000843378	benign	not provided	2018-07-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143926	SCV001304490	benign	Pituitary hormone deficiency, combined, 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	RCV000712842	SCV001831395	benign	not provided	2019-12-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001143926	SCV002795216	likely benign	Pituitary hormone deficiency, combined, 1	2022-02-14	criteria provided, single submitter	clinical testing
Invitae	RCV000712842	SCV004454991	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712842	SCV001800284	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000179288	SCV001918442	benign	not specified		no assertion criteria provided	clinical testing