Submissions for variant NM_005802.5(TOPORS):c.2643C>G (p.His881Gln)

gnomAD frequency: 0.00253  dbSNP: rs41302222

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177247	SCV000229090	benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289442	SCV000479571	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.
Invitae	RCV000883941	SCV001027283	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000883941	SCV004157638	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TOPORS: BP4, BS2
Clinical Genetics, Academic Medical Center	RCV000177247	SCV001924436	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000883941	SCV001974572	likely benign	not provided		no assertion criteria provided	clinical testing