Submissions for variant NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=)

gnomAD frequency: 0.40719  dbSNP: rs7496640

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000322067	SCV000389976	benign	Weill-Marchesani 4 syndrome, 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.
Genome-Nilou Lab	RCV000322067	SCV001769357	benign	Weill-Marchesani 4 syndrome, recessive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001675801	SCV001894959	benign	not provided	2018-09-04	criteria provided, single submitter	clinical testing
Invitae	RCV001675801	SCV002323344	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000322067	SCV000733425	benign	Weill-Marchesani 4 syndrome, recessive		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579790	SCV001808521	benign	not specified		no assertion criteria provided	clinical testing