ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.45G>A (p.Glu15=)

gnomAD frequency: 0.00022  dbSNP: rs201824641
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186617 SCV000167744 benign not specified 2013-04-22 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.
Eurofins Ntd Llc (ga) RCV000186617 SCV000202484 benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457718 SCV000560163 benign Neuronal ceroid lipofuscinosis 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312825 SCV000849411 benign Inborn genetic diseases 2017-02-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV001116115 SCV001977440 benign Neuronal ceroid lipofuscinosis 3 2021-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000186617 SCV004813746 benign not specified 2024-02-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579962 SCV001809200 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000186617 SCV001917741 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579962 SCV001968672 likely benign not provided no assertion criteria provided clinical testing

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