Submissions for variant NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)

gnomAD frequency: 0.00277  dbSNP: rs143313688

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002312778	SCV000847234	likely benign	Inborn genetic diseases	2018-05-21	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	RCV001079316	SCV001116253	likely benign	Neuronal ceroid lipofuscinosis 13	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000968779	SCV001148333	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CTSF: BS2
Athena Diagnostics	RCV001288581	SCV001475807	benign	not specified	2019-12-18	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000968779	SCV001716096	uncertain significance	not provided	2019-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000968779	SCV001751165	likely benign	not provided	2020-08-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000968779	SCV001808362	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000968779	SCV001975743	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980336	SCV004787265	likely benign	CTSF-related disorder	2020-03-24	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).