ClinVar Miner

Submissions for variant NM_033084.4(FANCD2):c.-33-?_1098+?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 RCV000240528 SCV000299155 pathogenic Fanconi anemia 2016-03-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-18 of the FANCD2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 18 of the FANCD2 gene. While this particular variant has not been reported in the literature, gross deletions and truncating variants in FANCD2 are known to be pathogenic (PMID: 17436244). For these reasons, this variant has been classified as Pathogenic.

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