Submissions for variant NM_024589.3(ROGDI):c.433-15C>T

gnomAD frequency: 0.00806  dbSNP: rs114103417

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245010	SCV000314353	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000342090	SCV000397142	benign	Amelocerebrohypohidrotic syndrome	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	RCV000342090	SCV002388737	benign	Amelocerebrohypohidrotic syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000342090	SCV002796150	likely benign	Amelocerebrohypohidrotic syndrome	2021-12-01	criteria provided, single submitter	clinical testing