ClinVar Miner

Submissions for variant NC_000014.8:g.(?_44820816)_(45645917_?)del

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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 RCV003109785 SCV003791785 pathogenic Fanconi anemia 2022-01-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant results in the deletion of exons 1-13 and a part of exon 14 (c.-784419_3960del) of the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111).

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