Submissions for variant NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)

gnomAD frequency: 0.00802  dbSNP: rs116644127

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000405531	SCV000437412	benign	CEDNIK 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.
Athena Diagnostics Inc	RCV000516649	SCV000615362	likely benign	not specified	2016-10-27	criteria provided, single submitter	clinical testing
Invitae	RCV000974375	SCV001122196	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000974375	SCV001885323	benign	not provided	2019-09-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000516649	SCV002070832	benign	not specified	2020-09-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000405531	SCV002813082	likely benign	CEDNIK syndrome	2022-04-15	criteria provided, single submitter	clinical testing