ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89818536)_(89846375_?)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 RCV001951578 SCV002238473 pathogenic Fanconi anemia 2021-01-31 criteria provided, single submitter clinical testing The region of the FANCA gene that includes exon(s) 21-29 has been determined to be clinically significant (PMID: 21273304, 29269525). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 18-31 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic.

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