ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003880746 SCV004688077 uncertain significance Fanconi anemia 2022-12-25 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 affected with FANCM-related conditions. This variant is present in population databases (rs749426532, gnomAD 0.007%). This variant, c.2135_2140dup, results in the insertion of 2 amino acid(s) of the FANCM protein (p.Leu713_Gln714insProLeu), but otherwise preserves the integrity of the reading frame.
GeneDx RCV004775531 SCV005386814 uncertain significance not provided 2024-02-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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