Submissions for variant NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)

dbSNP: rs1064794627

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000488098	SCV000569604	likely benign	not provided	2023-04-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000488098	SCV000575453	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ADAMTS2: BS2
Invitae	RCV001081612	SCV000647142	benign	Ehlers-Danlos syndrome, dermatosparaxis type	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000482208	SCV001363191	benign	not specified	2019-04-10	criteria provided, single submitter	clinical testing	Variant summary: ADAMTS2 c.80_100dup21 (p.Leu27_Pro33dup) results in an in-frame duplication of 7 amino acids into the encoded protein. The variant allele was found at a frequency of 0.0044 in 27980 control chromosomes. The observed variant frequency is approximately 1.5 fold of the estimated maximal expected allele frequency for a pathogenic variant in ADAMTS2 causing Ehlers-Danlos Syndrome, Type VIIC (Dermatosparaxis) phenotype (0.0029), strongly suggesting that the variant is benign. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (2x VUS, 1x Benign). Based on the evidence outlined above, the variant was classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279244	SCV002566067	likely benign	Ehlers-Danlos syndrome	2022-03-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001081612	SCV001463010	likely benign	Ehlers-Danlos syndrome, dermatosparaxis type	2020-04-20	no assertion criteria provided	clinical testing