ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) (rs372706571)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120943 SCV000594632 likely benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Invitae RCV000869827 SCV001011286 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001115380 SCV001273352 likely benign Fanconi anemia, complementation group A 2017-04-28 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.
ITMI RCV000120943 SCV000085111 not provided not specified 2013-09-19 no assertion provided reference population

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