Submissions for variant NM_003793.4(CTSF):c.1401T>C (p.Arg467=)

gnomAD frequency: 0.62182  dbSNP: rs572846

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249206	SCV000309831	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000249206	SCV000338634	benign	not specified	2015-12-23	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625316	SCV000744902	benign	Neuronal ceroid lipofuscinosis 13	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000675400	SCV000841685	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311381	SCV000845987	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx	RCV000675400	SCV000985857	benign	not provided	2018-06-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625316	SCV001727473	benign	Neuronal ceroid lipofuscinosis 13	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625316	SCV001876392	benign	Neuronal ceroid lipofuscinosis 13	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675400	SCV005318625	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625316	SCV000745743	benign	Neuronal ceroid lipofuscinosis 13	2016-04-22	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675400	SCV000801073	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing