Submissions for variant NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)

gnomAD frequency: 0.00419  dbSNP: rs61750006

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000887700	SCV001031275	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001129686	SCV001289227	likely benign	Weill-Marchesani 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.
GeneDx	RCV000887700	SCV001830896	likely benign	not provided	2023-05-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000887700	SCV004146556	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	ADAMTS10: PP2, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001796305	SCV002035282	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000887700	SCV002037054	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930699	SCV004746556	benign	ADAMTS10-related disorder	2019-05-08	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).