Submissions for variant NM_003793.4(CTSF):c.1158C>T (p.Asn386=)

gnomAD frequency: 0.00447  dbSNP: rs116329758

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002312333	SCV000846407	likely benign	Inborn genetic diseases	2016-05-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000956967	SCV001103759	benign	Neuronal ceroid lipofuscinosis 13	2023-12-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288579	SCV001475805	benign	not specified	2019-11-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001613439	SCV001838716	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001613439	SCV005216568	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004731023	SCV005338083	benign	CTSF-related disorder	2024-03-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).