Submissions for variant NM_145200.5(CABP4):c.800-5C>T

gnomAD frequency: 0.05627  dbSNP: rs72934713

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252054	SCV000316091	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355251	SCV000373506	benign	Cone-rod synaptic disorder, congenital nonprogressive	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511794	SCV001719091	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000355251	SCV001776061	benign	Cone-rod synaptic disorder, congenital nonprogressive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001511794	SCV001910624	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001511794	SCV005318680	benign	not provided		criteria provided, single submitter	not provided