ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.66C>G (p.Pro22=)

gnomAD frequency: 0.00287  dbSNP: rs199762900
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173595 SCV000339973 benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322879 SCV000425460 uncertain significance Retinitis pigmentosa 2018-01-13 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625305 SCV000744786 likely benign Retinitis pigmentosa 26 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000953183 SCV001099743 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000625305 SCV004563841 benign Retinitis pigmentosa 26 2023-09-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000173595 SCV001920711 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000625305 SCV002076193 likely benign Retinitis pigmentosa 26 2019-10-22 no assertion criteria provided clinical testing

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