Submissions for variant NM_014762.4(DHCR24):c.1026T>C (p.Ile342=)

gnomAD frequency: 0.66290  dbSNP: rs718265

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000263910	SCV000358153	benign	Desmosterolosis	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.
GeneDx	RCV001612930	SCV001832659	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000263910	SCV001876674	benign	Desmosterolosis	2021-07-30	criteria provided, single submitter	clinical testing
Invitae	RCV001612930	SCV002453355	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing