Submissions for variant NM_001852.4(COL9A2):c.312C>T (p.Pro104=)

gnomAD frequency: 0.00195  dbSNP: rs144072834

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179394	SCV000231636	benign	not specified	2015-03-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000841353	SCV000983315	likely benign	not provided	2019-12-09	criteria provided, single submitter	clinical testing
Invitae	RCV000841353	SCV001030515	benign	not provided	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100863	SCV001257404	benign	Epiphyseal dysplasia, multiple, 2	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.
CeGaT Center for Human Genetics Tuebingen	RCV000841353	SCV004127870	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL9A2: BP4, BP7