Submissions for variant NM_018941.4(CLN8):c.513C>G (p.Pro171=)

gnomAD frequency: 0.00073  dbSNP: rs376910635

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726643	SCV000527640	likely benign	not provided	2019-03-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726643	SCV000701918	uncertain significance	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081197	SCV001005611	likely benign	Neuronal ceroid lipofuscinosis	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002339051	SCV002641021	likely benign	Inborn genetic diseases	2020-09-18	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.
Natera, Inc.	RCV001081197	SCV001454739	uncertain significance	Neuronal ceroid lipofuscinosis	2020-01-17	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539856	SCV004779708	likely benign	CLN8-related disorder	2019-09-20	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).