Submissions for variant NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)

dbSNP: rs144934076

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000596259	SCV000705949	uncertain significance	not provided	2017-02-06	criteria provided, single submitter	clinical testing
Invitae	RCV000596259	SCV001054801	benign	not provided	2024-01-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143285	SCV001303793	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000596259	SCV004699457	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SNRNP200: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV001701054	SCV001917805	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000596259	SCV001968091	likely benign	not provided		no assertion criteria provided	clinical testing