ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.900T>C (p.His300=)

gnomAD frequency: 0.00020  dbSNP: rs183252158
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342680 SCV000425446 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.
Eurofins Ntd Llc (ga) RCV000597622 SCV000702718 uncertain significance not provided 2016-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597622 SCV001038752 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000342680 SCV001462464 likely benign Retinitis pigmentosa 2019-12-26 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700065 SCV001922496 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000597622 SCV001968009 likely benign not provided no assertion criteria provided clinical testing

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