Submissions for variant NM_003793.4(CTSF):c.1368C>T (p.Asp456=)

gnomAD frequency: 0.00759  dbSNP: rs148155987

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244283	SCV000309830	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313982	SCV000848842	likely benign	Inborn genetic diseases	2016-04-15	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	RCV001087894	SCV001109247	benign	Neuronal ceroid lipofuscinosis 13	2024-01-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000675401	SCV001143654	benign	not provided	2018-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000675401	SCV001859206	benign	not provided	2019-08-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001087894	SCV002808260	likely benign	Neuronal ceroid lipofuscinosis 13	2022-01-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001087894	SCV004564093	benign	Neuronal ceroid lipofuscinosis 13	2023-09-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675401	SCV005216545	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675401	SCV000801074	benign	not provided	2018-02-08	no assertion criteria provided	clinical testing