ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)

gnomAD frequency: 0.00019  dbSNP: rs138026584
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466767 SCV000558942 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119038 SCV001277374 uncertain significance Fanconi anemia complementation group I 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.
Sema4, Sema4 RCV000466767 SCV002529814 likely benign Fanconi anemia 2021-03-29 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001119038 SCV004015675 likely benign Fanconi anemia complementation group I 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003401499 SCV004137603 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902684 SCV004726383 likely benign FANCI-related disorder 2021-02-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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