ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.283+3A>C (rs786204204)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168293 SCV000218971 pathogenic Fanconi anemia 2014-12-05 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the FANCA mRNA. It does not directly change the encoded amino acid sequence of the FANCA protein. This sequence change is not present in population databases. It has been reported in the homozygous state in an individual affected with Fanconi anemia (PMID: 12955722). Experimental studies demonstrated abnormal mRNA splicing patterns associated with this nucleotide change (PMID: 12955722). For these reasons, this sequence change has been classified as Pathogenic.

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