Submissions for variant NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)

gnomAD frequency: 0.07777  dbSNP: rs79980197

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248232	SCV000314643	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272153	SCV000436402	benign	Knobloch syndrome	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.
Athena Diagnostics	RCV000711307	SCV000841648	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000272153	SCV001141308	benign	Knobloch syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000711307	SCV001726455	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000272153	SCV001821803	benign	Knobloch syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589282	SCV001821804	benign	Glaucoma, primary closed-angle	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000711307	SCV001837977	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing