Submissions for variant NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=)

gnomAD frequency: 0.00766  dbSNP: rs61731454

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000287537	SCV000456866	benign	Ehlers-Danlos syndrome, dermatosparaxis type	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	RCV001706585	SCV000532972	benign	not provided	2018-08-14	criteria provided, single submitter	clinical testing
Invitae	RCV000287537	SCV000647107	benign	Ehlers-Danlos syndrome, dermatosparaxis type	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278597	SCV002565479	likely benign	Ehlers-Danlos syndrome	2020-04-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000287537	SCV002084182	benign	Ehlers-Danlos syndrome, dermatosparaxis type	2019-10-18	no assertion criteria provided	clinical testing