ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89871672)_(89880557_?)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 RCV004581520 SCV005066847 pathogenic Fanconi anemia 2023-05-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with clinical features of Fanconi anemia (PMID: 26799702, 29098742, 31558676). The region of the FANCA gene that includes exon(s) 6-7 has been determined to be clinically significant (PMID: 15059067, 16015582, 24584348, 26841305, 29098742, 29797310). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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