ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2151+7G>A

dbSNP: rs2039330078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455479 SCV001659239 likely benign Fanconi anemia 2024-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501596 SCV002805130 likely benign Fanconi anemia complementation group A 2021-08-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478841 SCV004221951 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing The FANCA c.2151+7G>A variant has not been reported in individuals with FANCA-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect FANCA mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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