Submissions for variant NM_019032.6(ADAMTSL4):c.1098G>A (p.Gly366=)

gnomAD frequency: 0.00424  dbSNP: rs75477151

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247181	SCV000313300	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000299084	SCV000348220	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958846	SCV001105728	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000958846	SCV001871828	benign	not provided	2018-10-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003338485	SCV004049189	benign	Ectopia lentis et pupillae	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000299084	SCV004049191	benign	Ectopia lentis 2, isolated, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000958846	SCV005283980	benign	not provided		criteria provided, single submitter	not provided