Submissions for variant NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr)

gnomAD frequency: 0.00001  dbSNP: rs782562675

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425180	SCV000515957	likely benign	not specified	2017-11-27	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.
Ambry Genetics	RCV002314164	SCV000849404	benign	Inborn genetic diseases	2017-05-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001512231	SCV001719612	benign	Neurodegeneration with brain iron accumulation 5	2023-10-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437166	SCV004166287	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	WDR45: BS1, BS2