ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)

gnomAD frequency: 0.00006  dbSNP: rs141025803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224397 SCV000281324 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Laboratory Services, Illumina RCV000265231 SCV000466827 uncertain significance Joubert syndrome 15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000265231 SCV001724250 benign Joubert syndrome 15 2024-01-01 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001261713 SCV001439022 likely benign Familial Autism Spectrum Disorder no assertion criteria provided research

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