Submissions for variant NM_003793.4(CTSF):c.1203C>T (p.Ser401=)

gnomAD frequency: 0.00016  dbSNP: rs139027846

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002539376	SCV001031986	likely benign	Neuronal ceroid lipofuscinosis 13	2024-08-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000888356	SCV001783087	likely benign	not provided	2019-03-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002346052	SCV002651129	likely benign	Inborn genetic diseases	2017-06-30	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.
PreventionGenetics, part of Exact Sciences	RCV003955945	SCV004775814	likely benign	CTSF-related disorder	2023-02-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).