ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89809188)_(89846385_?)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 RCV001941933 SCV002229433 pathogenic Fanconi anemia 2021-12-09 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 18-37 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. The region of the FANCA gene that includes exon(s) 28-33 has been determined to be clinically significant (Invitae). 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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