ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)

gnomAD frequency: 0.02526  dbSNP: rs17227354
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000120948 SCV000302498 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625424 SCV000399817 likely benign Fanconi anemia complementation group A 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000270548 SCV000558878 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625424 SCV000745332 benign Fanconi anemia complementation group A 2014-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001719883 SCV001947346 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120948 SCV002046808 benign not specified 2021-04-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153391 SCV003843317 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
ITMI RCV000120948 SCV000085116 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625424 SCV000745885 benign Fanconi anemia complementation group A 2016-04-06 no assertion criteria provided clinical testing
Natera, Inc. RCV000625424 SCV001458748 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000120948 SCV001798815 benign not specified no assertion criteria provided clinical testing

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