Submissions for variant NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)

gnomAD frequency: 0.00051  dbSNP: rs113207069

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435344	SCV000512818	benign	not specified	2015-09-21	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	RCV000457811	SCV000555922	likely benign	Neuronal ceroid lipofuscinosis	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000435344	SCV000613143	benign	not specified	2017-04-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318384	SCV000851034	likely benign	Inborn genetic diseases	2016-06-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV003430981	SCV004151015	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	DNAJC5: BP4, BP7