Submissions for variant NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)

gnomAD frequency: 0.00047  dbSNP: rs61753580

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000343558	SCV000432565	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga)	RCV000591814	SCV000703476	uncertain significance	not provided	2016-12-01	criteria provided, single submitter	clinical testing
Invitae	RCV000591814	SCV001720483	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000591814	SCV004155205	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SNRNP200: BP4, BP7, BS1