Submissions for variant NM_002109.6(HARS1):c.1458+7G>A

gnomAD frequency: 0.18812  dbSNP: rs58302597

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221917	SCV000269140	benign	not specified	2015-04-14	criteria provided, single submitter	clinical testing	c.1458+7G>A in intron 12 of HARS: This variant is not expected to have clinical significance because it has been identified in 24% (16069/50639) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs58302597).
GeneDx	RCV000221917	SCV000717077	benign	not specified	2017-05-09	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.
Invitae	RCV000607948	SCV001727087	benign	Usher syndrome type 3B	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607948	SCV000734380	benign	Usher syndrome type 3B		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000221917	SCV001924136	benign	not specified		no assertion criteria provided	clinical testing