Submissions for variant NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)

gnomAD frequency: 0.00108  dbSNP: rs140022033

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001310889	SCV000511976	likely benign	not provided	2021-01-28	criteria provided, single submitter	clinical testing
Invitae	RCV000560281	SCV000647126	likely benign	Ehlers-Danlos syndrome, dermatosparaxis type	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000560281	SCV001316506	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV001310889	SCV001500866	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	ADAMTS2: BP4
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278653	SCV002565723	likely benign	Ehlers-Danlos syndrome	2021-11-23	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000560281	SCV001457819	likely benign	Ehlers-Danlos syndrome, dermatosparaxis type	2020-05-01	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001310889	SCV001808945	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001310889	SCV001974645	likely benign	not provided		no assertion criteria provided	clinical testing