ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.1210C>A (p.His404Asn) (rs146610181)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116748 SCV000167746 benign not specified 2013-10-22 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223968 SCV000280830 likely benign not provided 2015-04-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000229400 SCV000285809 benign Neuronal ceroid lipofuscinosis 2018-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274494 SCV000396319 uncertain significance Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717295 SCV000848144 benign Seizures 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000116748 SCV000150722 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000223968 SCV000801706 likely benign not provided 2017-02-27 no assertion criteria provided clinical testing

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