ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.122+9G>A

gnomAD frequency: 0.00407  dbSNP: rs192327462
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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 RCV000531417 SCV000437990 uncertain significance Parkinsonian-pyramidal syndrome 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.
Invitae RCV000531417 SCV000640390 likely benign Parkinsonian-pyramidal syndrome 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592300 SCV000705965 likely benign not specified 2017-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221941 SCV003916361 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FBXO7: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000531417 SCV000734122 likely benign Parkinsonian-pyramidal syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000531417 SCV000745599 likely benign Parkinsonian-pyramidal syndrome 2016-04-19 no assertion criteria provided clinical testing

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