Submissions for variant NM_001379500.1(COL18A1):c.2379+7C>T

gnomAD frequency: 0.00379  dbSNP: rs202100967

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000374354	SCV000436410	likely benign	Knobloch 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000374354	SCV001440489	likely benign	Knobloch syndrome	2019-01-01	criteria provided, single submitter	clinical testing
Invitae	RCV001518120	SCV001726765	benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001518120	SCV004146726	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	COL18A1: BP4, BS2