Submissions for variant NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)

gnomAD frequency: 0.99986  dbSNP: rs7252299

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000837579	SCV000979435	benign	not provided	2018-04-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000608518	SCV001140970	benign	Weill-Marchesani syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000837579	SCV001733031	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608518	SCV001769136	benign	Weill-Marchesani syndrome 1	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000837579	SCV005309121	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608518	SCV000733934	benign	Weill-Marchesani syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000608518	SCV000745747	benign	Weill-Marchesani syndrome 1	2015-02-20	no assertion criteria provided	clinical testing