ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) (rs112239768)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173024 SCV000167774 benign not specified 2012-05-07 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173024 SCV000202487 benign not specified 2015-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173024 SCV000247043 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing
Invitae RCV000989355 SCV000290387 benign Neuronal ceroid lipofuscinosis 2020-12-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282280 SCV000603089 benign none provided 2020-02-16 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677327 SCV000803558 benign Neuronal ceroid lipofuscinosis 6 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Ceroid lipofuscinosis, neuronal, 6, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Ambry Genetics RCV000715864 SCV000846696 benign Seizures 2017-05-24 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) ;Insufficient or conflicting evidence;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Mendelics RCV000989355 SCV001139646 benign Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989355 SCV001278035 uncertain significance Neuronal ceroid lipofuscinosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000675965 SCV000801694 uncertain significance not provided 2017-04-19 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000675965 SCV001739970 likely benign not provided no assertion criteria provided clinical testing

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