ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.313C>T (p.Arg105Trp)

gnomAD frequency: 0.00370  dbSNP: rs149078111
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276396 SCV000425453 uncertain significance Retinitis pigmentosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000614379 SCV000714359 likely benign not specified 2017-07-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000886395 SCV001029900 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888786 SCV004705504 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Medical Genetics, College of Basic Medicine, Army Medical University RCV004703813 SCV004801278 uncertain significance Retinitis pigmentosa 26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886395 SCV005433100 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing CERKL: BP4, BS1
Natera, Inc. RCV000276396 SCV001452434 uncertain significance Retinitis pigmentosa 2020-01-09 no assertion criteria provided clinical testing

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