Submissions for variant NM_006493.4(CLN5):c.-87C>T

gnomAD frequency: 0.00309  dbSNP: rs200353554

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000187062	SCV000224521	likely benign	not specified	2017-06-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000187062	SCV000240637	likely benign	not specified	2017-11-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000429471	SCV000511529	likely benign	not provided	2016-12-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989147	SCV000560158	benign	Neuronal ceroid lipofuscinosis	2025-02-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000429471	SCV000612844	benign	not provided	2018-11-05	criteria provided, single submitter	clinical testing
Counsyl	RCV000671703	SCV000796704	likely benign	Neuronal ceroid lipofuscinosis 5	2017-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313021	SCV000848986	likely benign	Inborn genetic diseases	2018-10-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV000429471	SCV000892070	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CLN5: BS1, BS2
Mendelics	RCV000989147	SCV001139363	likely benign	Neuronal ceroid lipofuscinosis	2019-05-28	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000671703	SCV001460312	benign	Neuronal ceroid lipofuscinosis 5	2020-04-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975257	SCV004794030	likely benign	CLN5-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).