Submissions for variant NM_178452.6(DNAAF1):c.*18T>C

gnomAD frequency: 0.03108  dbSNP: rs2288024

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252615	SCV000316629	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343172	SCV000399180	benign	Primary ciliary dyskinesia 13	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.
GeneDx	RCV001582891	SCV001812375	likely benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31213628)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001582891	SCV004564134	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001582891	SCV005212189	likely benign	not provided		criteria provided, single submitter	not provided