Submissions for variant NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)

gnomAD frequency: 0.00308  dbSNP: rs148735841

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175289	SCV000226755	likely benign	not specified	2015-04-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384870	SCV000398345	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003103741	SCV000883611	likely benign	Retinitis pigmentosa 45	2022-02-28	criteria provided, single submitter	clinical testing
Invitae	RCV000755932	SCV001716755	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755932	SCV003917525	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CNGB1: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV000755932	SCV001922181	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000755932	SCV001971314	likely benign	not provided		no assertion criteria provided	clinical testing