Submissions for variant NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)

gnomAD frequency: 0.00353  dbSNP: rs3214060

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176880	SCV000228638	benign	not specified	2014-06-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368460	SCV000432591	benign	Retinitis pigmentosa	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951240	SCV001097620	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492765	SCV002804130	likely benign	Retinitis pigmentosa 33	2022-03-30	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888630	SCV004705425	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000951240	SCV005245805	benign	not provided		criteria provided, single submitter	not provided