Submissions for variant NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=)

dbSNP: rs116214586

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152915	SCV000202342	benign	not specified	2013-12-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267819	SCV000377257	benign	Retinal cone dystrophy 4	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 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	RCV000959084	SCV001105973	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000267819	SCV002808676	likely benign	Retinal cone dystrophy 4	2022-05-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000959084	SCV005234185	benign	not provided		criteria provided, single submitter	not provided