ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.402A>G (p.Leu134=)

gnomAD frequency: 0.00701  dbSNP: rs147260208
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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 RCV000373701 SCV000481943 likely benign Fanconi anemia complementation group B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000279173 SCV000481944 likely benign VACTERL association, X-linked, with or without hydrocephalus 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000470748 SCV000558851 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721057 SCV000851942 benign History of neurodevelopmental disorder 2014-05-16 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV001821127 SCV002066091 benign not specified 2021-03-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000373701 SCV004017597 benign Fanconi anemia complementation group B 2023-07-07 criteria provided, single submitter clinical testing

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