Submissions for variant NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala)

gnomAD frequency: 0.00593  dbSNP: rs75956769

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000276701	SCV000432572	benign	Retinitis pigmentosa	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.
Eurofins Ntd Llc (ga)	RCV000596657	SCV000702413	benign	not specified	2016-10-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974500	SCV001122323	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000974500	SCV004011186	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SNRNP200: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000974500	SCV005245801	benign	not provided		criteria provided, single submitter	not provided