ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.402A>G (p.Leu134=) (rs147260208)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,Illumina RCV000279173 SCV000481944 likely benign VACTERL association with hydrocephaly, X-linked 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.
Invitae RCV000470748 SCV000558851 benign Fanconi anemia 2019-12-31 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

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