Submissions for variant NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)

gnomAD frequency: 0.00133  dbSNP: rs147427344

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178471	SCV000230554	likely benign	not specified	2014-12-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000386192	SCV000432574	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.
Invitae	RCV000884978	SCV001028391	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001885	SCV001159622	likely benign	Retinitis pigmentosa 33	2019-06-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001001885	SCV002801118	likely benign	Retinitis pigmentosa 33	2022-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000884978	SCV004155206	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SNRNP200: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV000178471	SCV001922725	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000884978	SCV001976060	likely benign	not provided		no assertion criteria provided	clinical testing