ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.710-5T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052274 SCV001216476 pathogenic Fanconi anemia 2019-03-10 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another FANCA variant in individuals affected with Fanconi anemia (PMID: 21273304, 24704046) and has been observed to segregate with disease in the affected family (PMID: 24704046). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 24704046). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001256223 SCV001425628 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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