Submissions for variant NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser)

gnomAD frequency: 0.00382  dbSNP: rs150125328

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174025	SCV000225253	likely benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274688	SCV000402482	likely benign	Congenital stationary night blindness 1E	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518988	SCV001727779	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001518988	SCV004144505	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	GPR179: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001518988	SCV005214695	likely benign	not provided		criteria provided, single submitter	not provided