Submissions for variant NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=)

gnomAD frequency: 0.00968  dbSNP: rs41317525

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000351062	SCV000348238	benign	Ectopia lentis 2, isolated, autosomal recessive	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.
GeneDx	RCV001590911	SCV001817244	likely benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001590911	SCV002418396	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003338537	SCV004049587	uncertain significance	Ectopia lentis et pupillae	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000351062	SCV004049588	uncertain significance	Ectopia lentis 2, isolated, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001590911	SCV004124601	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	ADAMTSL4: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001590911	SCV005261639	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003930200	SCV004746301	benign	ADAMTSL4-related disorder	2019-08-21	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).