ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1360-64_1360del

dbSNP: rs2143477254
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371636 SCV001568208 uncertain significance Fanconi anemia 2020-10-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 14 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein.

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