Submissions for variant NM_020800.3(IFT80):c.371-10C>A

gnomAD frequency: 0.00420  dbSNP: rs188321058

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000363402	SCV000337650	likely benign	not specified	2015-12-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094922	SCV000441920	likely benign	Asphyxiating thoracic dystrophy 2	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000371641	SCV000630962	benign	Jeune thoracic dystrophy	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001094922	SCV001474548	likely benign	Asphyxiating thoracic dystrophy 2	2023-10-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278290	SCV002566855	benign	Connective tissue disorder	2022-01-21	criteria provided, single submitter	clinical testing